المؤلفون: Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

المصدر: The Journal of allergy and clinical immunology. 141(3)

مصطلحات موضوعية: Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation, Humans, Genetic Diseases, X-Linked, Diabetes Mellitus, Type 1, Immune System Diseases, Diarrhea, Disease-Free Survival, Hematopoietic Stem Cell Transplantation, Survival Rate, Retrospective Studies, Follow-Up Studies, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Forkhead Transcription Factors, Allografts, Immunosuppression Therapy, FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Clinical Research, Stem Cell Research, Regenerative Medicine, Pediatric, Genetics, Transplantation, Aetiology, 2.1 Biological and endogenous factors, Immunology, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/56g0d17dTest

المؤلفون: Gregory, Louise C., Ferreira, Carolina B., Young-Baird, Sara K., Williams, Hywel J., Harakalova, Magdalena, van Haaften, Gijs, Rahman, Sofia A., Gaston-Massuet, Carles, Kelberman, Daniel, GOSgene, Qasim, Waseem, Camper, Sally A., Dever, Thomas E., Shah, Pratik, Robinson, Iain C.A.F., Dattani, Mehul T.

المساهمون: Genetica, Cancer, Child Health

مصطلحات موضوعية: EIF2S3, Glucose dysregulation, Hypoglycaemia, Hypopituitarism, Protein synthesis, Translation initiation, Protein Biosynthesis, Humans, Hypopituitarism/diagnosis, Child, Preschool, Infant, Gene Knockdown Techniques, Brain/diagnostic imaging, Genes, X-Linked, In Situ Hybridization, Glucose/metabolism, Cell Line, Eukaryotic Initiation Factor-2/chemistry, Magnetic Resonance Imaging, Phenotype, Pedigree, Polymorphism, Single Nucleotide, Mutation, Amino Acid Substitution, Apoptosis, General Biochemistry,Genetics and Molecular Biology, Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/392040Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/392040Test

المؤلفون: Barzaghi, Federica, Amaya Hernandez, Laura Cristina, Neven, Benedicte, Ricci, Silvia, Kucuk, Zeynep Yesim, Bleesing, Jack J, Nademi, Zohreh, Slatter, Mary Anne, Ulloa, Erlinda Rose, Shcherbina, Anna, Roppelt, Anna, Worth, Austen, Silva, Juliana, Aiuti, Alessandro, Murguia-Favela, Luis, Speckmann, Carsten, Carneiro-Sampaio, Magda, Fernandes, Juliana Folloni, Baris, Safa, Ozen, Ahmet, Karakoc-Aydiner, Elif, Kiykim, Ayca, Schulz, Ansgar, Steinmann, Sandra, Notarangelo, Lucia Dora, Gambineri, Eleonora, Lionetti, Paolo, Shearer, William Thomas, Forbes, Lisa R, Martinez, Caridad, Moshous, Despina, Blanche, Stephane, Fisher, Alain, Ruemmele, Frank M, Tissandier, Come, Ouachee-Chardin, Marie, Rieux-Laucat, Frédéric, Cavazzana, Marina, Qasim, Waseem, Lucarelli, Barbarella, Albert, Michael H, Kobayashi, Ichiro, Alonso, Laura, Diaz De Heredia, Cristina, Kanegane, Hirokazu, Lawitschka, Anita, Seo, Jong Jin, Gonzalez-Vicent, Marta, Diaz, Miguel Angel, Goyal, Rakesh Kumar, Sauer, Martin G, Yesilipek, Akif, Kim, Minsoo, Yilmaz-Demirdag, Yesim, Bhatia, Monica, Khlevner, Julie, Richmond Padilla, Erick J, Martino, Silvana, Montin, Davide, Neth, Olaf, Molinos-Quintana, Agueda, Valverde-Fernandez, Justo, Broides, Arnon, Pinsk, Vered, Ballauf, Antje, Haerynck, Filomeen, Bordon, Victoria, Dhooge, Catharina, Garcia-Lloret, Maria Laura, Bredius, Robbert G, Kałwak, Krzysztof, Haddad, Elie, Seidel, Markus Gerhard, Duckers, Gregor, Pai, Sung-Yun, Dvorak, Christopher C, Ehl, Stephan, Locatelli, Franco, Goldman, Frederick, Gennery, Andrew Richard, Cowan, Mort J, Roncarolo, Maria-Grazia, Bacchetta, Rosa, Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT)

مصطلحات موضوعية: FOXP3, IPEX, Treg cells, enteropathy, genetic autoimmunity, hematopoietic stem cell transplantation, immunosuppression, neonatal diabetes, primary immune deficiency, rapamycin, Adolescent, Adult, Allografts, Child, Preschool, Diabetes Mellitus, Type 1, Diarrhea, Disease-Free Survival, Female, Follow-Up Studies, Forkhead Transcription Factors, Genetic Diseases, X-Linked, Humans, Immune System Diseases, Immunosuppression Therapy, Infant, Male, Mutation

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/11909Test; PMC6050203; https://doi.org/10.1016/j.jaci.2017.10.041Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050203/pdfTest

الإتاحة: https://doi.org/10.1016/j.jaci.2017.10.041Test
http://hdl.handle.net/10668/11909Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6050203/pdfTest

المؤلفون: Morfopoulou, Sofia, Brown, Julianne R., Davies, E Graham, Anderson, Glenn, Virasami, Alex, Qasim, Waseem, Chong, Wui K., Hubank, Michael, Plagnol, Vincent, Desforges, Marc, Jacques, Thomas S., Talbot, Pierre J., Breuer, Judith

مصطلحات موضوعية: Coronavirus Infections, Coronavirus OC43, Encephalitis, Fatal Outcome, Humans, Infant, Male, Severe Combined Immunodeficiency

وصف الملف: application/pdf

العلاقة: https://espace.inrs.ca/id/eprint/4543/1/Human%20Coronavirus%20OC43%20Associated%20with%20Fatal%20Encephalitis.pdfTest; Morfopoulou, Sofia, Brown, Julianne R., Davies, E Graham, Anderson, Glenn, Virasami, Alex, Qasim, Waseem, Chong, Wui K., Hubank, Michael, Plagnol, Vincent, Desforges, Marc, Jacques, Thomas S., Talbot, Pierre J. et Breuer, Judith (2016). Human Coronavirus OC43 Associated with Fatal Encephalitis New England Journal of Medicine , vol. 375 , nº 5. p. 497-8. DOI:10.1056/NEJMc1509458 .

الإتاحة: https://doi.org/10.1056/NEJMc1509458Test
https://espace.inrs.ca/id/eprint/4543Test/
https://espace.inrs.ca/id/eprint/4543/1/Human%20Coronavirus%20OC43%20Associated%20with%20Fatal%20Encephalitis.pdfTest

المؤلفون: Thaventhiran, James E.D., Lango Allen, Hana, Burren, Oliver S., Rae, William, Greene, Daniel, Staples, Emily, Zhang, Zinan, Farmery, James H.R., Simeoni, Ilenia, Rivers, Elizabeth, Maimaris, Jesmeen, Penkett, Christopher J., Stephens, Jonathan, Deevi, Sri V.V., Sanchis-Juan, Alba, Gleadall, Nicholas S., Thomas, Moira J., Sargur, Ravishankar B., Gordins, Pavels, Baxendale, Helen E., Brown, Matthew, Tuijnenburg, Paul, Worth, Austen, Hanson, Steven, Linger, Rachel J., Buckland, Matthew S., Rayner-Matthews, Paula J., Gilmour, Kimberly C., Samarghitean, Crina, Seneviratne, Suranjith L., Sansom, David M., Lynch, Andy G., Megy, Karyn, Ellinghaus, Eva, Ellinghaus, David, Jorgensen, Silje F., Karlsen, Tom H., Stirrups, Kathleen E., Cutler, Antony J., Kumararatne, Dinakantha S., Chandra, Anita, Edgar, J. David M., Herwadkar, Archana, Cooper, Nichola, Grigoriadou, Sofia, Huissoon, Aarnoud P., Goddard, Sarah, Jolles, Stephen, Schuetz, Catharina, Boschann, Felix, Abbs, Stephen, Adhya, Zoe, Adlard, Julian, Afzal, Maryam, Ahmed, Irshad, Ahmed, Munaza, Ahmed, Saeed, Aitman, Timothy J., Alachkar, Hana, Alamelu, Jayanthi, Alikhan, Raza, Allen, Carl E., Allen, Louise, Allsup, David J., Alvi, Arif, Ambegaonkar, Gautam, Anantharachagan, Ariharan, Ancliff, Philip, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Arya, Rita, Ashford, Sofie, Astle, William J., Attwood, Anthony, Austin, Steve, Aydinok, Yesim, Ayub, Waqar, Babbs, Christian, Bacchelli, Chiara, Baglin, Trevor, Bakchoul, Tamam, Bariana, Tadbir K., Barratt, Jonathan, Barwell, Julian, Baski, John, Bates, Rachel W., Batista, Joana, Baynam, Gareth, Bennett, David L., Bethune, Claire, Bhatnagar, Neha, Bibi, Shahnaz, Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Bleda, Marta, Blesneac, Iulia, Boardman, Barbara, Boddana, Preetham, Bogaard, Harm J., Booth, Claire, Boyce, Sara, Bradley, John R., Brady, Angela, Breen, Gerome, Brennan, Paul, Brewer, Carole, Briley, Annette, Brown, Richard, Browning, Michael J., Brownlie, Mary, Bryson, Christine J., Buchan, Rachel J., Buck, Jackie, Bueser, Teofila, Diz, Carmen Bugarin, Burns, Siobhan O., Calleja, Paul, Carmichael, Jenny, Carr-White, Gerald, Carss, Keren J., Casey, Ruth, Chalmers, Elizabeth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Chan, Melissa V., Cheng, Floria, Chinn, Ivan K., Chinnery, Patrick F., Chitre, Manali, Chong, Sam, Christian, Martin T., Church, Colin, Clement, Emma M., Brod, Naomi Clements, Clifford, Hayley, Clowes, Virginia E., Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine H., Collins, Peter W., Condliffe, Robin, Cook, H. Terence, Cook, Stuart, Cookson, Victoria, Corris, Paul A., Creaser-Myers, Amanda, Crisp-Hihn, Abigail, Curry, Nicola S., Da Costa, Rosa, Danesino, Cesare, Daniels, Matthew J., Darby, Damaris, Daugherty, Louise C., Davies, E. G., Davies, Sophie, Davis, John, de Bree, Godelieve J., Deacock, Sarah, Deegan, Patrick B., Dempster, John, Dent, Timothy, Deshpande, Charu, Devlin, Lisa A., Dewhurst, Eleanor F., Dixit, Anand K., Dixon, Peter H., Doffinger, Rainer, Dolling, Helen, Dormand, Natalie, Downes, Kate, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edwards, Karen E., Egner, William, Ekani, Melanie N., El-Shanawany, Tariq, Elkhalifa, Shuayb, Elston, Tony, Emmerson, Ingrid, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Favier, Remi, Firth, Helen V., Fitzpatrick, Maggie M., Fletcher, Debra, Flinter, Frances A., Fox, James C., Frary, Amy J., French, Courtney E., Freson, Kathleen, Frontini, Mattia, Furie, Bruce, Gale, Daniel P., Gall, Henning J., Gardham, Alice, Gaspar, H. Bobby, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Ghurye, Rohit, Gibbs, J. Simon R., Gilbert, Rodney D., Girerd, Barbara, Girling, Joanna C., Gissen, Paul, Gorman, Kathleen M., Gosal, David, Graf, Stefan, Grassi, Luigi, Greenhalgh, Alan J., Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip G., Griffiths, Sian, Grozeva, Detelina, Hackett, Scott J., Hadden, Robert D.M., Hadinnapola, Charaka, Hague, Rosie, Hague, William M., Haimel, Matthias, Hall, Matthew, Halmagyi, Csaba, Hammerton, Tracey, Hanson, Helen L., Harkness, Kirsty, Harper, Andrew R., Harper, Lorraine, Harris, Claire, Harrison, Claire, Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Heemskerk, Johan W.M., Hegde, Shivaram, Henderson, Alex, Henderson, Robert H., Hensiek, Anke, Henskens, Yvonne M.C., Hodgson, Joshua, Hoffman, Jonathan, Holden, Simon, Holder, Muriel, Horvath, Rita, Houlden, Henry, Houweling, Arjan C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Sean, Hughes, Stephen, Huis in ‘t Veld, Anna E., Humbert, Marc, Hurles, Matthew E., Hurst, Jane A., Irvine, Val, Izatt, Louise, James, Roger, Jeevaratnam, Praveen, Johnson, Mark, Johnson, Sally A., Jolley, Jennifer D., Jones, Bryony, Jones, Julie, Josifova, Dragana, Jurkute, Neringa, Karim, Yousuf M., Karoshi, Mahantesh A., Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kempster, Carly, Kennedy, Fiona, Kiani, Sorena, Kiely, David G., Kingston, Nathalie, Kinsey, Sally, Klein, Nigel, Klima, Robert, Knox, Ellen, Kostadima, Myrto A., Kovacs, Gabor, Koziell, Ania B., Kreuzhuber, Roman, Krishnakumar, Deepa, Kuijpers, Taco W., Kumar, Ajith, Kurian, Manju A., Laffan, James, Laffan, Michael A., Lalloo, Fiona, Lambert, Michele P., Lawman, Sarah H.A., Lawrie, Allan, Layton, D. Mark, Lear, Sara E., Lees, Melissa M., Lentaigne, Claire, Levine, Adam P., Lewington, Andrew J.P., Li, Wei, Liesner, Ri, Liu, Bin, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Hadeler, Silvia Lucato, Lyons, Paul A., Macdougall, Malcolm, Machado, Rajiv D., MacKenzie Ross, Robert V., Mackillop, Lucy H., MacLaren, Robert, Madan, Bella, Magee, Laura, Mahdi-Rogers, Mohamed, Maher, Eamonn R., Makris, Mike, Mangles, Sarah, Manson, Ania, Manzur, Adnan, Mapeta, Rutendo, Marchbank, Kevin J., Mark, Patrick B., Marks, Stephen, Markus, Hugh S., Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer M., Masati, Larahmie, Mathias, Mary, Matser, Vera, Matthews, Emma L., Maw, Anna, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McDermott, Elizabeth M., McGowan, Simon J., McJannet, Coleen, McKinney, Harriet, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Meehan, Sharon, Mehta, Sarju, Mercer, Catherine L., Michaelides, Michel, Michell, Anna C., Milford, David, Millar, Carolyn M., Millar, Hazel, Mistry, Anoop, Moenen, Floor, Moledina, Shahin, Montani, David, Moore, Anthony T., Moore, Jason, Morrell, Nicholas W., Morrisson, Valerie, Mozere, Monika, Muir, Keith W., Mumford, Andrew D., Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Newnham, Michael, Ng, Joanne, Ngoh, Adeline, Noorani, Sadia, Noori, Muna, Nurden, Paquita, O’Sullivan, Jennifer M., Obaji, Samya, Okoli, Steven, Oksenhendler, Eric, Olschewski, Andrea, Olschewski, Horst, Ong, Albert C.M., Ong, Kai Ren, Oram, Helen, Ormondroyd, Elizabeth, Othman, Shokri, Ouwehand, Willem H., Pantazis, Antonis, Papadia, Sofia, Papandreou, Apostolos, Park, Soo Mi, Parker, Alasdair P.J., Parry, David, Parsons, Georgina, Pasi, K. John, Paterson, Joan, Payne, Jeanette H., Peacock, Andrew J., Peerlinck, Kathelijne, Pepke-Zaba, Joanna, Perry, David, Petersen, Romina, Piechowski-Jozwiak, Bartlomiej, Pinto, Fernando, Polwarth, Gary J., Ponsford, Mark J., Prasad, Sanjay, Prokopenko, Inga, Psaila, Beth, Pyle, Angela, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raina, Sanjay, Ranganathan, Lavanya, Rankin, Julia, Rankin, Stuart, Rao, Anupama, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Reilly, Mary M., Renton, Tara, Revel-Vilk, Shoshana, Rhodes, Christopher J., Rice, Andrew S.C., Richards, Emma E., Richards, Mike, Richardson, Sylvia, Richter, Alex, Robert, Leema, Roberts, Irene, Rondina, Matthew T., Rosser, Elisabeth, Rothwell, Peter, Roughley, Catherine, Roy, Noemi B., Rue-Albrecht, Kevin, Sadeghi-Alavijeh, Omid, Saleem, Moin A., Salmon, Richard M., Samani, Nilesh J., Sambrook, Jennifer G., Sandford, Richard, Santra, Saikat, Satchell, Simon C., Savic, Sinisa, Scelsi, Laura, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sewell, W. A.Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Shapiro, Susan E., Sharma, Pankaj, Shehata, Hassan A., Shipley, Deborah, Shtoyerman, Rakefet, Sibson, Keith, Side, Lucy, Simpson, Michael, Sims, Matthew C., Sinha, Manish D., Sivapalaratnam, Suthesh, Skytte, Anne Bine, Smith, Kenneth G.C., Snape, Katie, Sneddon, Linda, Sohal, Aman, Soubrier, Florent, Southgate, Laura, Southwood, Mark, Splitt, Miranda, Staines, Simon, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stein, Daniel, Stein, Penelope E., Stock, Sophie, Stubbs, Matthew J., Suntharalingam, Jay, Swietlik, Emilia M., Symington, Emily, Tait, R. Campbell, Talks, Kate, Tan, Rhea Y.Y., Taylor, Gordon B., Thachil, Jecko, Themistocleous, Andreas C., Thomas, David C., Thomas, Ellen, Thomas, Patrick, Thompson, Dorothy A., Thomson, Kate, Thrasher, Adrian J., Thys, Chantal, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tool, Anton T.J., Toshner, Mark R., Traylor, Matthew, Treacy, Carmen M., Treadaway, Paul, Trembath, Richard C., Trippier, Sarah, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Upton, Paul D., Urniaz, Rafal, Vale, Tom, Van Geet, Chris, van Zuydam, Natalie, Vandersteen, Anthony M., Vazquez-Lopez, Marta, Veltman, Marijcke W.M., Vogt, Julie, von Ziegenweidt, Julie, Noordegraaf, Anton Vonk, Vora, Ajay, Vries, Minka J.A., Wakeling, Emma L., Walker, Neil, Walker, Suellen M., Walsh, Roddy, Wanjiku, Ivy, Ware, James S., Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watson, Henry G., Watt, Christopher, Waugh, Dean, Webb, Nick, Webster, Andrew R., Wei, Wei, Welch, Angela, Welch, Steven B., Werring, David, Wessels, Julie, Westbury, Sarah K., Westwood, John Paul W., Wharton, John, Whitehorn, Deborah, Whitworth, James, Wilkins, Martin R., Willcocks, Lisa, Williams, David J., Williamson, Catherine, Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R., Workman, Sarita, Wort, Stephen J., Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska

المساهمون: Wellcome Trust, Thaventhiran, James [0000-0001-8616-074X], Lango Allen, Hana [0000-0002-7803-8688], Burren, Oliver [0000-0002-3388-5760], Rae, William [0000-0003-0095-2514], Zhang, Zinan [0000-0003-3831-2272], Megy, Karyn [0000-0002-2826-3879], Johnson, Kathleen [0000-0002-6823-3252], Smith, Kenneth [0000-0003-3829-4326], Apollo - University of Cambridge Repository, University of St Andrews. School of Medicine, University of St Andrews. Statistics, University of St Andrews. Sir James Mackenzie Institute for Early Diagnosis, University of St Andrews. Cellular Medicine Division, Ege Üniversitesi, Experimental Immunology, Graduate School, AII - Inflammatory diseases, Infectious diseases, APH - Aging & Later Life, APH - Global Health, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, APH - Quality of Care, ACS - Atherosclerosis & ischemic syndromes, Biochemie, RS: Carim - B03 Cell biochemistry of thrombosis and haemostasis, Faculteit FHML Centraal, MUMC+: DA CDL Algemeen (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, Promovendi CD

المصدر: Primary Immunodeficiency Consortium for the NIHR Bioresource, Evans, D G & Daniels, M J 2020, ' Whole-genome sequencing of a sporadic primary immunodeficiency cohort ', Nature, vol. 583, no. 7814, pp. 90-95 . https://doi.org/10.1038/s41586-020-2265-1Test, https://doi.org/10.1038/s41586-020-2265-1Test
Nature, 583(7814), 90-95. Nature Publishing Group
Thaventhiran, J E D, Lango Allen, H, Burren, O S, Rae, W, Greene, D, Staples, E, Zhang, Z, Farmery, J H R, Simeoni, I, Rivers, E, Maimaris, J, Penkett, C J, Stephens, J, Deevi, S V V, Sanchis-Juan, A, Gleadall, N S, Thomas, M J, Sargur, R B, Gordins, P, Baxendale, H E, Brown, M, Tuijnenburg, P, Worth, A, Hanson, S, Linger, R J, Buckland, M S, Rayner-Matthews, P J, Gilmour, K C, Samarghitean, C, Seneviratne, S L, Sansom, D M, Lynch, A G, Megy, K, Ellinghaus, E, Ellinghaus, D, Jorgensen, S F, Karlsen, T H, Stirrups, K E, Cutler, A J, Kumararatne, D S, Chandra, A, Edgar, J D M, Herwadkar, A, Cooper, N, Grigoriadou, S, Huissoon, A P, Goddard, S, Jolles, S, Schuetz, C, Boschann, F, Abbs, S, Adhya, Z, Adlard, J, Afzal, M, Ahmed, I, Ahmed, M, Ahmed, S, Aitman, T J, Alachkar, H, Alamelu, J, Alikhan, R, Allen, C E, Allen, L, Allsup, D J, Alvi, A, Ambegaonkar, G, Anantharachagan, A, Ancliff, P, Anderson, J, Antrobus, R, Armstrong, R, Arno, G, Arumugakani, G, Arya, R, Ashford, S, Astle, W J, Attwood, A, Austin, S, Aydinok, Y, Ayub, W, Babbs, C, Bacchelli, C, Baglin, T, Bakchoul, T, Bariana, T K, Barratt, J, Barwell, J, Baski, J, Bates, R W, Batista, J, Baxendale, H E, Baynam, G, Bennett, D L, Bethune, C, Bhatnagar, N, Bibi, S, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Bleda, M, Blesneac, I, Boardman, B, Boddana, P, Bogaard, H J, Booth, C, Boyce, S, Bradley, J R, Brady, A, Breen, G, Brennan, P, Brewer, C, Briley, A, Brown, M, Brown, R, Browning, M J, Brownlie, M, Bryson, C J, Buchan, R J, Buck, J, Buckland, M S, Bueser, T, Diz, C B, Burns, S O, Burren, O S, Calleja, P, Carmichael, J, Carr-White, G, Carss, K J, Casey, R, Chalmers, E, Chambers, J, Chambers, J, Chan, M M Y, Chan, M V, Chandra, A, Cheng, F, Chinn, I K, Chinnery, P F, Chitre, M, Chong, S, Christian, M T, Church, C, Clement, E M, Brod, N C, Clifford, H, Clowes, V E, Coghlan, G, Colby, E, Cole, T R P, Collins, J H, Collins, P W, Condliffe, R, Cook, H T, Cook, S, Cookson, V, Cooper, N, Corris, P A, Creaser-Myers, A, Crisp-Hihn, A, Curry, N S, Cutler, A J, Da Costa, R, Danesino, C, Daniels, M J, Darby, D, Daugherty, L C, Davies, E G, Davies, S, Davis, J, de Bree, G J, Deacock, S, Deegan, P B, Deevi, S V V, Dempster, J, Dent, T, Deshpande, C, Devlin, L A, Dewhurst, E F, Dixit, A K, Dixon, P H, Doffinger, R, Dolling, H, Dormand, N, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K E, Egner, W, Ekani, M N, El-Shanawany, T, Elkhalifa, S, Elston, T, Emmerson, I, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Farmery, J H R, Favier, R, Firth, H V, Fitzpatrick, M M, Fletcher, D, Flinter, F A, Fox, J C, Frary, A J, French, C E, Freson, K, Frontini, M, Furie, B, Gale, D P, Gall, H J, Gardham, A, Gaspar, H B, Gattens, M, Ghali, N, Ghataorhe, P K, Ghio, S, Ghofrani, H A, Ghurye, R, Gibbs, J S R, Gilbert, R D, Gilmour, K C, Girerd, B, Girling, J C, Gissen, P, Gleadall, N S, Goddard, S, Gordins, P, Gorman, K M, Gosal, D, Graf, S, Grassi, L, Greene, D, Greenhalgh, A J, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P G, Griffiths, S, Grigoriadou, S, Grozeva, D, Hackett, S J, Hadden, R D M, Hadinnapola, C, Hague, R, Hague, W M, Haimel, M, Hall, M, Halmagyi, C, Hammerton, T, Hanson, H L, Harkness, K, Harper, A R, Harper, L, Harris, C, Harrison, C, Hart, D, Hassan, A, Hayman, G, Heemskerk, J W M, Hegde, S, Henderson, A, Henderson, R H, Hensiek, A, Henskens, Y M C, Herwadkar, A, Hodgson, J, Hoffman, J, Holden, S, Holder, M, Horvath, R, Houlden, H, Houweling, A C, Howard, L S, Hu, F, Hudson, G, Hughes, S, Hughes, S, Huis in ‘t Veld, A E, Huissoon, A P, Humbert, M, Hurles, M E, Hurst, J A, Irvine, V, Izatt, L, James, R, Jeevaratnam, P, Johnson, M, Johnson, S A, Jolles, S, Jolley, J D, Jones, B, Jones, J, Josifova, D, Jurkute, N, Karim, Y M, Karoshi, M A, Kasanicki, M A, Kazkaz, H, Kazmi, R, Keeling, D, Kelleher, P, Kelly, A M, Kempster, C, Kennedy, F, Kiani, S, Kiely, D G, Kingston, N, Kinsey, S, Klein, N, Klima, R, Knox, E, Kostadima, M A, Kovacs, G, Koziell, A B, Kreuzhuber, R, Krishnakumar, D, Kuijpers, T W, Kumar, A, Kumararatne, D S, Kurian, M A, Laffan, J, Laffan, M A, Lalloo, F, Lambert, M P, Lango Allen, H, Lawman, S H A, Lawrie, A, Layton, D M, Lear, S E, Lees, M M, Lentaigne, C, Levine, A P, Lewington, A J P, Li, W, Liesner, R, Linger, R J, Liu, B, Longhurst, H, Lorenzo, L E, Louka, E, Hadeler, S L, Lyons, P A, Macdougall, M, Machado, R D, MacKenzie Ross, R V, Mackillop, L H, MacLaren, R, Madan, B, Magee, L, Mahdi-Rogers, M, Maher, E R, Maimaris, J, Makris, M, Mangles, S, Manson, A, Manzur, A, Mapeta, R, Marchbank, K J, Mark, P B, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J M, Masati, L, Mathias, M, Matser, V, Matthews, E L, Maw, A, Maxwell, H, McAlinden, P, McCarthy, M I, McDermott, E M, McGowan, S J, McJannet, C, McKinney, H, Meacham, S, Mead, A J, Castello, I M, Meehan, S, Megy, K, Mehta, S, Mercer, C L, Michaelides, M, Michell, A C, Milford, D, Millar, C M, Millar, H, Mistry, A, Moenen, F, Moledina, S, Montani, D, Moore, A T, Moore, J, Morrell, N W, Morrisson, V, Mozere, M, Muir, K W, Mumford, A D, Murng, S H K, Nasir, I, Nejentsev, S, Newnham, M, Ng, J, Ngoh, A, Noorani, S, Noori, M, Nurden, P, O’Sullivan, J M, Obaji, S, Okoli, S, Oksenhendler, E, Olschewski, A, Olschewski, H, Ong, A C M, Ong, K R, Oram, H, Ormondroyd, E, Othman, S, Ouwehand, W H, Pantazis, A, Papadia, S, Papandreou, A, Park, S M, Parker, A P J, Parry, D, Parsons, G, Pasi, K J, Paterson, J, Payne, J H, Peacock, A J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Perry, D, Petersen, R, Piechowski-Jozwiak, B, Pinto, F, Polwarth, G J, Ponsford, M J, Prasad, S, Prokopenko, I, Psaila, B, Pyle, A, Qasim, W, Quinn, E, Quinti, I, Raina, S, Ranganathan, L, Rankin, J, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rehnstrom, K, Reid, E, Reilly, M M, Renton, T, Revel-Vilk, S, Rhodes, C J, Rice, A S C, Richards, E E, Richards, M, Richardson, S, Richter, A, Robert, L, Roberts, I, Rondina, M T, Rosser, E, Rothwell, P, Roughley, C, Roy, N B, Rue-Albrecht, K, Sadeghi-Alavijeh, O, Saleem, M A, Salmon, R M, Samani, N J, Samarghitean, C, Sambrook, J G, Sanchis-Juan, A, Sandford, R, Santra, S, Sargur, R B, Satchell, S C, Savic, S, Scelsi, L, Schotte, G, Schulman, S, Schulze, H, Scott, R, Scully, M, Searle, C, Seeger, W, Seneviratne, S L, Sewell, W A C, Seyres, D, Shackley, F, Shamardina, O, Shapiro, S E, Sharma, P, Shehata, H A, Shipley, D, Shtoyerman, R, Sibson, K, Side, L, Simeoni, I, Simpson, M, Sims, M C, Sinha, M D, Sivapalaratnam, S, Skytte, A B, Smith, K G C, Snape, K, Sneddon, L, Sohal, A, Soubrier, F, Southgate, L, Southwood, M, Splitt, M, Staines, S, Staples, E, Stark, H, Stauss, H, Steele, C L, Stein, D, Stein, P E, Stephens, J, Stirrups, K E, Stock, S, Stubbs, M J, Suntharalingam, J, Swietlik, E M, Symington, E, Tait, R C, Talks, K, Tan, R Y Y, Taylor, G B, Thachil, J, Thaventhiran, J E D, Themistocleous, A C, Thomas, D C, Thomas, E, Thomas, M J, 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Nature

مصطلحات موضوعية: 0301 basic medicine, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 2/genetics, Genome-wide association study, VARIANTS, Regulatory Sequences, Nucleic Acid, medicine.disease_cause, Genome, Cohort Studies, 0302 clinical medicine, RARE, QR180 Immunology, Primary Immunodeficiency Consortium for the NIHR Bioresource, Genetics, Protein Tyrosine Phosphatase, Non-Receptor Type 2, Multidisciplinary, Suppressor of Cytokine Signaling 1 Protein/genetics, GENETIC-VARIATION, RNA-Binding Proteins, Primary Immunodeficiency Diseases/diagnosis, ASSOCIATION, Penetrance, Multidisciplinary Sciences, DEFICIENCY, QR180, Science & Technology - Other Topics, Female, General Science & Technology, Primary Immunodeficiency Diseases, Transcription Factors/genetics, Genomics, COMMON VARIABLE IMMUNODEFICIENCY, QH426 Genetics, Biology, Article, Actin-Related Protein 2-3 Complex, 03 medical and health sciences, Suppressor of Cytokine Signaling 1 Protein, SDG 3 - Good Health and Well-being, SUPPRESSOR, Actin-Related Protein 2-3 Complex/genetics, medicine, Humans, QH426, Whole genome sequencing, Science & Technology, Whole Genome Sequencing, Common variable immunodeficiency, DAS, Bayes Theorem, Immune dysregulation, Regulatory Sequences, Nucleic Acid/genetics, medicine.disease, RNA-Binding Proteins/genetics, STAT1 MUTATIONS, 030104 developmental biology, Primary immunodeficiency, IUIS PHENOTYPIC CLASSIFICATION, GAIN, 030215 immunology, Genome-Wide Association Study, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af27ecd7ff6e77892766328e6fd72819Test
http://hdl.handle.net/10044/1/80000Test

المؤلفون: Farmery, James H. R., Smith, Mike L., Huissoon, Aarnoud, Furnell, Abigail, Mead, Adam, Levine, Adam P., Manzur, Adnan, Thrasher, Adrian, Greenhalgh, Alan, Parker, Alasdair, Sanchis-Juan, Alba, Richter, Alex, Gardham, Alice, Lawrie, Allan, Sohal, Aman, Creaser-Myers, Amanda, Frary, Amy, Greinacher, Andreas, Themistocleous, Andreas, Peacock, Andrew J., Marshall, Andrew, Mumford, Andrew, Rice, Andrew, Webster, Andrew, Brady, Angie, Koziell, Ania, Manson, Ania, Chandra, Anita, Hensiek, Anke, Veld, Anna Huis In'T., Maw, Anna, Kelly, Anne M., Moore, Anthony, Vonk Noordegraaf, Anton, Attwood, Antony, Herwadkar, Archana, Ghofrani, Ardi, Houweling, Arjan C., Girerd, Barbara, Furie, Bruce, Treacy, Carmen M., Millar, Carolyn M., Sewell, Carrock, Roughley, Catherine, Titterton, Catherine, Williamson, Catherine, Hadinnapola, Charaka, Deshpande, Charu, Toh, Cheng-Hock, Bacchelli, Chiara, Patch, Chris, Geet, Chris Van, Babbs, Christian, Bryson, Christine, Penkett, Christopher J., Rhodes, Christopher J., Watt, Christopher, Bethune, Claire, Booth, Claire, Lentaigne, Claire, McJannet, Coleen, Church, Colin, French, Courtney, Samarghitean, Crina, Halmagyi, Csaba, Gale, Daniel, Greene, Daniel, Hart, Daniel, Allsup, David, Bennett, David, Edgar, David, Kiely, David G., Gosal, David, Perry, David J., Keeling, David, Montani, David, Shipley, Debbie, Whitehorn, Deborah, Fletcher, Debra, Krishnakumar, Deepa, Grozeva, Detelina, Kumararatne, Dinakantha, Thompson, Dorothy, Josifova, Dragana, Maher, Eamonn, Wong, Edwin K. S., Murphy, Elaine, Dewhurst, Eleanor, Louka, Eleni, Rosser, Elisabeth, Chalmers, Elizabeth, Colby, Elizabeth, Drewe, Elizabeth, McDermott, Elizabeth, Thomas, Ellen, Staples, Emily, Clement, Emma, Matthews, Emma, Wakeling, Emma, Oksenhendler, Eric, Turro, Ernest, Reid, Evan, Wassmer, Evangeline, Raymond, F. Lucy, Hu, Fengyuan, Kennedy, Fiona, Soubrier, Florent, Flinter, Frances, Kovacs, Gabor, Polwarth, Gary, Ambegaonkar, Gautum, Arno, Gavin, Hudson, Gavin, Woods, Geoff, Coghlan, Gerry, Hayman, Grant, Arumugakani, Gururaj, Schotte, Gwen, Cook, H. Terry, Alachkar, Hana, Lango Allen, Hana, Lango-Allen, Hana, Stark, Hannah, Stauss, Hans, Schulze, Harald, Boggard, Harm J., Baxendale, Helen, Dolling, Helen, Firth, Helen, Gall, Henning, Watson, Henry, Longhurst, Hilary, Markus, Hugh S., Watkins, Hugh, Simeoni, Ilenia, Emmerson, Ingrid, Roberts, Irene, Quinti, Isabella, Wanjiku, Ivy, Gibbs, J. Simon R., Thaventhiran, James, Whitworth, James, Hurst, Jane, Collins, Janine, Suntharalingam, Jay, Payne, Jeanette, Thachil, Jecko, Martin, Jennifer M., Carmichael, Jenny, Maimaris, Jesmeen, Paterson, Joan, Pepke-Zaba, Joanna, Heemskerk, Johan W. M., Gebhart, Johanna, Davis, John, Pasi, John, Bradley, John R., Wharton, John, Stephens, Jonathan, Rankin, Julia, Anderson, Julie, Vogt, Julie, von Ziegenweldt, Julie, Rehnstrom, Karola, Megy, Karyn, Talks, Kate, Peerlinck, Kathelijne, Yates, Katherine, Freson, Kathleen, Stirrups, Kathleen, Gomez, Keith, Smith, Kenneth G. C., Rue-Albrecht, Kevin, Gilmour, Kimberley, Masati, Larahmie, Scelsi, Laura, Southgate, Laura, Ranganathan, Lavanya, Ginsberg, Lionel, Devlin, Lisa, Willcocks, Lisa, Ormondroyd, Liz, Lorenzo, Lorena, Harper, Lorraine, Allen, Louise, Daugherty, Louise, Chitre, Manali, Kurian, Manju, Humbert, Marc, Tischkowitz, Marc, Bitner-Glindzicz, Maria, Erwood, Marie, Scully, Marie, Veltman, Marijke, Caulfield, Mark, Layton, Mark, McCarthy, Mark, Ponsford, Mark, Toshner, Mark, Bleda, Marta, Wilkins, Martin, Mathias, Mary, Reilly, Mary, Afzal, Maryam, Brown, Matthew, Rondina, Matthew, Stubbs, Matthew, Haimel, Matthias, Lees, Melissa, Laffan, Michael A., Browning, Michael, Gattens, Michael, Richards, Michael, Michaelides, Michel, Lambert, Michele P., Makris, Mike, de Vries, Minka, Mahdi-Rogers, Mohamed, Saleem, Moin, Thomas, Moira, Holder, Muriel, Eyries, M. lanie, Clements-Brod, Naomi, Canham, Natalie, Dormand, Natalie, Zuydam, Natalie Van, Kingston, Nathalie, Ghali, Neeti, Cooper, Nichola, Morrell, Nicholas W., Yeatman, Nigel, Roy, Noémi, Shamardina, Olga, Alavijeh, Omid S., Gresele, Paolo, Nurden, Paquita, Chinnery, Patrick, Deegan, Patrick, Yong, Patrick, Man, Patrick Yu Wai, Corris, Paul A., Calleja, Paul, Gissen, Paul, Bolton-Maggs, Paula, Rayner-Matthews, Paula, Ghataorhe, Pavandeep K., Gordins, Pavel, Stein, Penelope, Collins, Peter, Dixon, Peter, Kelleher, Peter, Ancliff, Phil, Yu, Ping, Tait, R. Campbell, Linger, Rachel, Doffinger, Rainer, Machado, Rajiv, Kazmi, Rashid, Sargur, Ravishankar, Favier, Remi, Tan, Rhea, Liesner, Ri, Antrobus, Richard, Sandford, Richard, Scott, Richard, Trembath, Richard, Horvath, Rita, Hadden, Rob, Mackenzieross, Rob V., Henderson, Robert, MacLaren, Robert, James, Roger, Ghurye, Rohit, Dacosta, Rosa, Hague, Rosie, Mapeta, Rutendo, Armstrong, Ruth, Noorani, Sadia, Murng, Sai, Santra, Saikat, Tuna, Salih, Johnson, Sally, Chong, Sam, Lear, Sara, Walker, Sara, Goddard, Sarah, Mangles, Sarah, Westbury, Sarah, Mehta, Sarju, Hackett, Scott, Nejentsev, Sergey, Moledina, Shahin, Bibi, Shahnaz, Meehan, Sharon, Othman, Shokri, Revel-Vilk, Shoshana, Holden, Simon, McGowan, Simon, Staines, Simon, Savic, Sinisa, Burns, Siobhan, Grigoriadou, Sofia, Papadia, Sofia, Ashford, Sofie, Schulman, Sol, Ali, Sonia, Park, Soo-Mi, Davies, Sophie, Stock, Sophie, Ali, Souad, Deevi, Sri V. V., Gräf, Stefan, Ghio, Stefano, Wort, Stephen J., Jolles, Stephen, Austin, Steve, Welch, Steve, Meacham, Stuart, Rankin, Stuart, Walker, Suellen, Seneviratne, Suranjith, Holder, Susan, Sivapalaratnam, Suthesh, Richardson, Sylvia, Kuijpers, Taco, Kuijpers, Taco W., Bariana, Tadbir K., Bakchoul, Tamam, Everington, Tamara, Renton, Tara, Young, Tim, Aitman, Timothy, Warner, Timothy Q., Vale, Tom, Hammerton, Tracey, Pollock, Val, Matser, Vera, Cookson, Victoria, Clowes, Virginia, Qasim, Waseem, Wei, Wei, Erber, Wendy N., Ouwehand, Willem H., Astle, William, Egner, William, Turek, Wojciech, Henskens, Yvonne, Tan, Yvonne, Lynch, Andy G.

المساهمون: Other departments, ARD - Amsterdam Reproduction and Development, Paediatric Infectious Diseases / Rheumatology / Immunology, Peerlinck, Kathelijne, Freson, Kathleen, University of St Andrews. Statistics, University of St Andrews. School of Medicine, University of St Andrews. Population and Behavioural Science Division, University of St Andrews. Cellular Medicine Division, Rue-Albrecht, K, VU University medical center, ACS - Pulmonary hypertension & thrombosis, Pulmonary medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Human genetics, ACS - Atherosclerosis & ischemic syndromes, Molecular cell biology and Immunology, Pediatric surgery, APH - Aging & Later Life, Lynch, Andy G [0000-0002-7876-7338], Apollo - University of Cambridge Repository

المصدر: Scientific reports, 8(1). Nature Publishing Group
Scientific Reports
Scientific Reports, 8(1):1300. Nature Publishing Group
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H IT, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C-H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, de Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M L, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S-M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, ' Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-yTest
Farmery, J H R, Smith, M L, Huissoon, A, Furnell, A, Mead, A, Levine, A P, Manzur, A, Thrasher, A, Greenhalgh, A, Parker, A, Sanchis-Juan, A, Richter, A, Gardham, A, Lawrie, A, Sohal, A, Creaser-Myers, A, Frary, A, Greinacher, A, Themistocleous, A, Peacock, A J, Marshall, A, Mumford, A, Rice, A, Webster, A, Brady, A, Koziell, A, Manson, A, Chandra, A, Hensiek, A, Veld, A H I T, Maw, A, Kelly, A M, Moore, A, Vonk Noordegraaf, A, Attwood, A, Herwadkar, A, Ghofrani, A, Houweling, A C, Girerd, B, Furie, B, Treacy, C M, Millar, C M, Sewell, C, Roughley, C, Titterton, C, Williamson, C, Hadinnapola, C, Deshpande, C, Toh, C H, Bacchelli, C, Patch, C, Geet, C V, Babbs, C, Bryson, C, Penkett, C J, Rhodes, C J, Watt, C, Bethune, C, Booth, C, Lentaigne, C, McJannet, C, Church, C, French, C, Samarghitean, C, Halmagyi, C, Gale, D, Greene, D, Hart, D, Allsup, D, Bennett, D, Edgar, D, Kiely, D G, Gosal, D, Perry, D J, Keeling, D, Montani, D, Shipley, D, Whitehorn, D, Fletcher, D, Krishnakumar, D, Grozeva, D, Kumararatne, D, Thompson, D, Josifova, D, Maher, E, Wong, E K S, Murphy, E, Dewhurst, E, Louka, E, Rosser, E, Chalmers, E, Colby, E, Drewe, E, McDermott, E, Thomas, E, Staples, E, Clement, E, Matthews, E, Wakeling, E, Oksenhendler, E, Turro, E, Reid, E, Wassmer, E, Raymond, F L, Hu, F, Kennedy, F, Soubrier, F, Flinter, F, Kovacs, G, Polwarth, G, Ambegaonkar, G, Arno, G, Hudson, G, Woods, G, Coghlan, G, Hayman, G, Arumugakani, G, Schotte, G, Cook, H T, Alachkar, H, Lango-Allen, H, Lango-Allen, H, Stark, H, Stauss, H, Schulze, H, Boggard, H J, Baxendale, H, Dolling, H, Firth, H, Gall, H, Watson, H, Longhurst, H, Markus, H S, Watkins, H, Simeoni, I, Emmerson, I, Roberts, I, Quinti, I, Wanjiku, I, Gibbs, J S R, Thaventhiran, J, Whitworth, J, Hurst, J, Collins, J, Suntharalingam, J, Payne, J, Thachil, J, Martin, J M, Carmichael, J, Maimaris, J, Paterson, J, Pepke-Zaba, J, Heemskerk, J W M, Gebhart, J, Davis, J, Pasi, J, Bradley, J R, Wharton, J, Stephens, J, Rankin, J, Anderson, J, Vogt, J, Von Ziegenweldt, J, Rehnstrom, K, Megy, K, Talks, K, Peerlinck, K, Yates, K, Freson, K, Stirrups, K, Gomez, K, Smith, K G C, Rue-Albrecht, K, Gilmour, K, Masati, L, Scelsi, L, Southgate, L, Ranganathan, L, Ginsberg, L, Devlin, L, Willcocks, L, Ormondroyd, L, Lorenzo, L, Harper, L, Allen, L, Daugherty, L, Chitre, M, Kurian, M, Humbert, M, Tischkowitz, M, Bitner-Glindzicz, M, Erwood, M, Scully, M, Veltman, M, Caulfield, M, Layton, M, McCarthy, M, Ponsford, M, Toshner, M, Bleda, M, Wilkins, M, Mathias, M, Reilly, M, Afzal, M, Brown, M, Rondina, M, Stubbs, M, Haimel, M, Lees, M, Laffan, M A, Browning, M, Gattens, M, Richards, M, Michaelides, M, Lambert, M P, Makris, M, De Vries, M, Mahdi-Rogers, M, Saleem, M, Thomas, M, Holder, M, Eyries, M, Clements-Brod, N, Canham, N, Dormand, N, Zuydam, N V, Kingston, N, Ghali, N, Cooper, N, Morrell, N W, Yeatman, N, Roy, N, Shamardina, O, Alavijeh, O S, Gresele, P, Nurden, P, Chinnery, P, Deegan, P, Yong, P, Man, P Y W, Corris, P A, Calleja, P, Gissen, P, Bolton-Maggs, P, Rayner-Matthews, P, Ghataorhe, P K, Gordins, P, Stein, P, Collins, P, Dixon, P, Kelleher, P, Ancliff, P, Yu, P, Tait, R C, Linger, R, Doffinger, R, Machado, R, Kazmi, R, Sargur, R, Favier, R, Tan, R, Liesner, R, Antrobus, R, Sandford, R, Scott, R, Trembath, R, Horvath, R, Hadden, R, Mackenzieross, R V, Henderson, R, MacLaren, R, James, R, Ghurye, R, Dacosta, R, Hague, R, Mapeta, R, Armstrong, R, Noorani, S, Murng, S, Santra, S, Tuna, S, Johnson, S, Chong, S, Lear, S, Walker, S, Goddard, S, Mangles, S, Westbury, S, Mehta, S, Hackett, S, Nejentsev, S, Moledina, S, Bibi, S, Meehan, S, Othman, S, Revel-Vilk, S, Holden, S, McGowan, S, Staines, S, Savic, S, Burns, S, Grigoriadou, S, Papadia, S, Ashford, S, Schulman, S, Ali, S, Park, S M, Davies, S, Stock, S, Ali, S, Deevi, S V V, Gräf, S, Ghio, S, Wort, S J, Jolles, S, Austin, S, Welch, S, Meacham, S, Rankin, S, Walker, S, Seneviratne, S, Holder, S, Sivapalaratnam, S, Richardson, S, Kuijpers, T W, Kuijpers, T W, Bariana, T K, Bakchoul, T, Everington, T, Renton, T, Young, T, Aitman, T, Warner, T Q, Vale, T, Hammerton, T, Pollock, V, Matser, V, Cookson, V, Clowes, V, Qasim, W, Wei, W, Erber, W N, Ouwehand, W H, Astle, W, Egner, W, Turek, W, Henskens, Y, Tan, Y & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, 1300 . https://doi.org/10.1038/s41598-017-14403-yTest
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
SCIENTIFIC REPORTS
Farmery, J H R, Smith, M L & Koziell, A & Lynch, A G 2018, ' Telomerecat : A ploidy-agnostic method for estimating telomere length from whole genome sequencing data ', Scientific Reports, vol. 8, no. 1, 1300 . https://doi.org/10.1038/s41598-017-14403-yTest

مصطلحات موضوعية: Telomerase, Carcinoma, Hepatocellular, Genotype, Science, QH301 Biology, Induced Pluripotent Stem Cells, Primary Cell Culture, Sequencing data, Gene Expression, Computational biology, Biology, Article, RC0254, 03 medical and health sciences, QH301, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Humans, 030304 developmental biology, Whole genome sequencing, 0303 health sciences, Ploidies, Multidisciplinary, Whole Genome Sequencing, Telomere biology, RC0254 Neoplasms. Tumors. Oncology (including Cancer), Liver Neoplasms, Telomere Homeostasis, Mesenchymal Stem Cells, DAS, Telomere, Publisher Correction, T Technology, Cancer data, 030220 oncology & carcinogenesis, Medicine, Ploidy, Algorithms

وصف الملف: Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef97ec48e4fd06247b5e4035469b2cfTest
https://pure.amc.nl/en/publications/telomerecat-a-ploidyagnostic-method-for-estimating-telomere-length-from-whole-genome-sequencing-dataTest(d426a425-dc71-40bb-ace0-dde9fbf4facc).html

المؤلفون: Shahni, Rojeen, Cale, Catherine M., Anderson, Glenn, Osellame, Laura D., Hambleton, Sophie, Jacques, Thomas S., Wedatilake, Yehani, Taanman, Jan-Willem, Chan, Emma, Qasim, Waseem, Plagnol, Vincent, Chalasani, Annapurna, Duchen, Michael R., Gilmour, Kimberly C., Rahman, Shamima

المصدر: Brain

مصطلحات موضوعية: Male, Mitochondrial Diseases, mitochondrial fission, JAK-STAT signalling, STAT2 Transcription Factor, Original Articles, Mitochondrial Dynamics, dynamin-related protein 1 (DRP1), mitochondrial disease, mitochondrial fusion, STAT2, Humans, Female, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::66fcb0c8c42c117c7d010546481c7213Test
http://europepmc.org/articles/PMC5808733Test

المؤلفون: Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony, Kucuk, Zeynep, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew, Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven, Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita, Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin, Casanova, Jean-Laurent, Orange, Jordan, Picard, Capucine

المساهمون: MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: Newborn, Inflammation, Inflammatory Bowel Diseases, Mutation, NF-kappa B, Phenotype, Signal Transduction, Survival Analysis, Tissue Donors, Transplantation Conditioning, Treatment Outcome, Child, Preschool, Cohort Studies, Hematopoietic Stem Cell Transplantation, Heterozygote, Humans, I-kappa B Kinase, Infant, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: hal-02083024; https://hal.science/hal-02083024Test; OKINA: ua19329; PUBMEDCENTRAL: PMC5609334

الإتاحة: https://doi.org/10.1182/blood-2017-03-771600Test
https://hal.science/hal-02083024Test

المؤلفون: Cottineau, Julien, Kottemann, Molly C., Lach, Francis P., Kang, Young-Hoon, Vely, Frederic, Deenick, Elissa K., Lazarov, Tomi, Gineau, Laure, Wang, Yi, Farina, Andrea, Chansel, Marie, Lorenzo, Lazaro, Piperoglou, Christelle, Ma, Cindy S., Nitschke, Patrick, Belkadi, Aziz, Itan, Yuval, Boisson, Bertrand, Jabot-Hanin, Fabienne, Picard, Capucine, Bustamante, Jacinta, Eidenschenk, Celine, Boucherit, Soraya, Aladjidi, Nathalie, Lacombe, Didier, Barat, Pascal, Qasim, Waseem, Hurst, Jane A., Pollard, Andrew J., Uhlig, Holm H., Fieschi, Claire, Michon, Jean, Bermudez, Vladimir P., Abel, Laurent, Villartay, Jean-Pierre, Geissmann, Frederic, Tangye, Stuart G., Hurwitz, Jerard, Vivier, Eric, Casanova, Jean-Laurent, Smogorzewska, Agata, Jouanguy, Emmanuelle

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Immunologie [AP-HM], Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Johns Hopkins University (JHU), CNR Istituto di Fotonica e Nanotecnologie [Milano] (IFN), Consiglio Nazionale delle Ricerche [Roma] (CNR), Laboratoire d'Immunologie [Hôpital de la Conception - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION)-Centre National de la Recherche Scientifique (CNRS), Immunology Program, Garvan Institute of medical research, St. Vincent’s Clinical School, Faculty of Medicine, University of New South Wales [Sydney] (UNSW), St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], Plateforme de génomique [SFR Necker], Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS), Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, CIC - Bordeaux, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique médicale, Université de Bordeaux (UB)-CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, UMR1286 Nutrition et Biologie Intégrative, Institut National de la Recherche Agronomique (INRA), Centre de Recherche Cardio-thoracique de Bordeaux, U1045, CHU Bordeaux [Bordeaux], Université de Bordeaux (UB), Centre d’Investigation Clinique de Bordeaux (CIC 1401), Great Ormond Street Hospital for Children [London] (GOSH), Univ Oxford, NIHR Oxford Biomed Res Ctr, Childrens Hosp, Dept Paediat, Service d'immunologie clinique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Société française de lutte contre les cancers et les leucémies de l’enfant et de l’adolescent (SFCE), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Memorial Sloane Kettering Cancer Center [New York], Howard Hughes Medical Institute (HHMI), The rockefeller university - LABORATORY OF GENOME MAINTENANCE, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-15-CE15-0013,NKD,Dissection moléculaire des déficits des cellules natural killer chez l'homme(2015), European Project: 20100317,THINK, National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Nutrition et Neurobiologie intégrée (NutriNeuro), Université Bordeaux Segalen - Bordeaux 2-Institut National de la Recherche Agronomique (INRA)-Université Sciences et Technologies - Bordeaux 1 (UB)-Institut Polytechnique de Bordeaux-Ecole nationale supérieure de chimie, biologie et physique, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital de la Conception [CHU - APHM] (LA CONCEPTION ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Assistance Publique - Hôpitaux de Marseille (APHM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION )-Centre National de la Recherche Scientifique (CNRS), The Rockefeller University, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Hôpital Trousseau - Service d׳Anatomie et Cytologie Pathologiques, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), St Giles laboratory of Human Genetics and Infectious Diseases, rockefeller university, Howard Hughes Medical Institute, Albert Einstein College of Medicine, ANR-10-IAHU-0001/10-IAHU-0001,Imagine,Imagine(2010), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Clinical Investigation
Journal of Clinical Investigation, American Society for Clinical Investigation, 2017, 127 (5), pp.1991-2006. ⟨10.1172/JCI90727⟩
Journal of Clinical Investigation, 2017, 127 (5), pp.1991-2006. ⟨10.1172/JCI90727⟩

مصطلحات موضوعية: Male, Fetal Growth Retardation, Neutropenia, Genetic Diseases, Inborn, Immunologic Deficiency Syndromes, Infant, DNA-Binding Proteins, Killer Cells, Natural, Mice, Animals, Humans, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, NK cell deficiency, Growth Disorders, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::067d6918d39cd85acb902cf6806cb899Test
https://hal-amu.archives-ouvertes.fr/hal-01765083/file/90727.2-20170420171923-covered-253bed37ca4c1ab43d105aefdf7b5536_HAL.pdfTest

المؤلفون: Hassan, Amel, Lee, Pamela, Maggina, Paraskevi, Xu, Jin Hua, Moreira, Diana, Slatter, Mary, Nademi, Zohreh, Worth, Austen, Adams, Stuart, Jones, Alison, Cale, Catherine, Allwood, Zoe, Rao, Kanchan, Chiesa, Robert, Amrolia, Persis, Gaspar, Hubert, Davies, E. Graham, Veys, Paul, Gennery, Andrew, Qasim, Waseem

المصدر: The Journal of Allergy and Clinical Immunology

مصطلحات موضوعية: Male, Transplantation Conditioning, MSD, Matched sibling donor, Immunology, allo-SCT, Allogeneic hematopoietic stem cell transplantation, Article, conditioning, T-Lymphocyte Subsets, Immune Deficiencies, Infection, and Systemic Immune Disorders, NK, Natural killer, Immunology and Allergy, Humans, Transplantation, Homologous, Cell Lineage, SCID, Severe combined immunodeficiency, MFD, Matched family donor, Transplantation Chimera, natural killer cells, Graft Survival, TREC, T-cell receptor excision circle, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, adenosine deaminase deficiency, ADA, Adenosine deaminase deficiency, JAK3, Janus kinase 3, Killer Cells, Natural, Severe combined immunodeficiency, chimerism, Female, engraftment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::05c017f16a051e89a02ea618a11e614bTest
http://europepmc.org/articles/PMC4048544Test