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1دورية أكاديمية
المؤلفون: Rhodes, Christopher J, Batai, Ken, Bleda, Marta, Haimel, Matthias, Southgate, Laura, Germain, Marine, Pauciulo, Michael W, Hadinnapola, Charaka, Aman, Jurjan, Girerd, Barbara, Arora, Amit, Knight, Jo, Hanscombe, Ken B, Karnes, Jason H, Kaakinen, Marika, Gall, Henning, Ulrich, Anna, Harbaum, Lars, Cebola, Inês, Ferrer, Jorge, Lutz, Katie, Swietlik, Emilia M, Ahmad, Ferhaan, Amouyel, Philippe, Archer, Stephen L, Argula, Rahul, Austin, Eric D, Badesch, David, Bakshi, Sahil, Barnett, Christopher, Benza, Raymond, Bhatt, Nitin, Bogaard, Harm J, Burger, Charles D, Chakinala, Murali, Church, Colin, Coghlan, John G, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Debette, Stéphanie, Elliott, C Gregory, Elwing, Jean, Eyries, Melanie, Fortin, Terry, Franke, Andre, Frantz, Robert P, Frost, Adaani, Garcia, Joe GN, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Harley, John, He, Hua, Hill, Nicholas S, Hirsch, Russel, Houweling, Arjan C, Howard, Luke S, Ivy, Dunbar, Kiely, David G, Klinger, James, Kovacs, Gabor, Lahm, Tim, Laudes, Matthias, Machado, Rajiv D, Ross, Robert V MacKenzie, Marsolo, Keith, Martin, Lisa J, Moledina, Shahin, Montani, David, Nathan, Steven D, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Oudiz, Ronald J, Ouwehand, Willem H, Peacock, Andrew J, Pepke-Zaba, Joanna, Rehman, Zia, Robbins, Ivan, Roden, Dan M, Rosenzweig, Erika B, Saydain, Ghulam, Scelsi, Laura, Schilz, Robert, Seeger, Werner, Shaffer, Christian M, Simms, Robert W, Simon, Marc, Sitbon, Olivier, Suntharalingam, Jay, Tang, Haiyang, Tchourbanov, Alexander Y, Thenappan, Thenappan, Torres, Fernando, Toshner, Mark R, Treacy, Carmen M, Noordegraaf, Anton Vonk, Waisfisz, Quinten, Walsworth, Anna K
المصدر: The Lancet Respiratory Medicine. 7(3)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Genetics, Human Genome, Lung, Aetiology, 2.1 Biological and endogenous factors, Cardiovascular, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotyping Techniques, HLA-DP alpha-Chains, HLA-DP beta-Chains, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide, Pulmonary Arterial Hypertension, Risk Assessment, SOXF Transcription Factors, Signal Transduction, Survival Analysis, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, US PAH Biobank Consortium, Public Health and Health Services, Other Medical and Health Sciences, Cardiovascular medicine and haematology, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4tz771bsTest
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2دورية أكاديمية
المؤلفون: Gräf, Stefan, Haimel, Matthias, Bleda, Marta, Hadinnapola, Charaka, Southgate, Laura, Li, Wei, Hodgson, Joshua, Liu, Bin, Salmon, Richard M, Southwood, Mark, Machado, Rajiv D, Martin, Jennifer M, Treacy, Carmen M, Yates, Katherine, Daugherty, Louise C, Shamardina, Olga, Whitehorn, Deborah, Holden, Simon, Aldred, Micheala, Bogaard, Harm J, Church, Colin, Coghlan, Gerry, Condliffe, Robin, Corris, Paul A, Danesino, Cesare, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Ghofrani, Hossein-Ardeschir, Gibbs, J Simon R, Girerd, Barbara, Houweling, Arjan C, Howard, Luke, Humbert, Marc, Kiely, David G, Kovacs, Gabor, MacKenzie Ross, Robert V, Moledina, Shahin, Montani, David, Newnham, Michael, Olschewski, Andrea, Olschewski, Horst, Peacock, Andrew J, Pepke-Zaba, Joanna, Prokopenko, Inga, Rhodes, Christopher J, Scelsi, Laura, Seeger, Werner, Soubrier, Florent, Stein, Dan F, Suntharalingam, Jay, Swietlik, Emilia M, Toshner, Mark R, van Heel, David A, Vonk Noordegraaf, Anton, Waisfisz, Quinten, Wharton, John, Wort, Stephen J, Ouwehand, Willem H, Soranzo, Nicole, Lawrie, Allan, Upton, Paul D, Wilkins, Martin R, Trembath, Richard C, Morrell, Nicholas W
المصدر: Nature Communications. 9(1)
مصطلحات موضوعية: Rare Diseases, Genetics, Human Genome, Clinical Research, Lung, 2.1 Biological and endogenous factors, Aetiology, Cardiovascular, Adenosine Triphosphatases, Adult, Aquaporin 1, Base Sequence, Bone Morphogenetic Protein Receptors, Type II, Case-Control Studies, Familial Primary Pulmonary Hypertension, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Growth Differentiation Factor 2, Growth Differentiation Factors, HEK293 Cells, Humans, Male, Membrane Transport Proteins, Models, Molecular, Mutation, Prognosis, SOXF Transcription Factors, Signal Transduction, Transforming Growth Factor beta, Whole Genome Sequencing
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/6q66073bTest
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3
المؤلفون: Turro, Ernest, Astle, William J., Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S., Downes, Kate, Haimel, Matthias, Tuna, Salih, Deevi, Sri V.V., Aitman, Timothy J., Bennett, David L., Calleja, Paul, Carss, Keren, Caulfield, Mark J., Chinnery, Patrick F., Dixon, Peter H., Gale, Daniel P., James, Roger, Koziell, Ania, Laffan, Michael A., Levine, Adam P., Maher, Eamonn R., Markus, Hugh S., Morales, Joannella, Morrell, Nicholas W., Mumford, Andrew D., Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B.A., Saleem, Moin A., Smith, Kenneth G.C., Stark, Hannah, Tan, Rhea Y.Y., Themistocleous, Andreas C., Thrasher, Adrian J., Watkins, Hugh, Webster, Andrew R., Wilkins, Martin R., Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R., Abbs, Stephen, Abulhoul, Lara, Adlard, Julian, Ahmed, Munaza, Alachkar, Hana, Allsup, David J., Almeida-King, Jeff, Ancliff, Philip, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Ashford, Sofie, Attwood, Anthony, Aurora, Paul, Babbs, Christian, Bacchelli, Chiara, Bakchoul, Tamam, Banka, Siddharth, Bariana, Tadbir, Barwell, Julian, Batista, Joana, Baxendale, Helen E., Beales, Phil L., Bierzynska, Agnieszka, Biss, Tina, Bitner-Glindzicz, Maria A.K., Black, Graeme C., Bleda, Marta, Blesneac, Iulia, Bockenhauer, Detlef, Bogaard, Harm, Bourne, Christian J., Boyce, Sara, Bradley, John R., Bragin, Eugene, Breen, Gerome, Brennan, Paul, Brewer, Carole, Brown, Matthew, Browning, Andrew C., Browning, Michael J., Buchan, Rachel J., Buckland, Matthew S., Bueser, Teofila, Diz, Carmen Bugarin, Burn, John, Burns, Siobhan O., Burrows, Nigel, Campbell, Carolyn, Carr-White, Gerald, Casey, Ruth, Chambers, Jenny, Chambers, John, Chan, Melanie M.Y., Cheah, Calvin, Cheng, Floria, Chitre, Manali, Christian, Martin T., Church, Colin, Clayton-Smith, Jill, Cleary, Maureen, Brod, Naomi Clements, Coghlan, Gerry, Colby, Elizabeth, Cole, Trevor R.P., Collins, Janine, Collins, Peter W., Colombo, Camilla, Compton, Cecilia J., Condliffe, Robin, Cook, Stuart, Cook, H. Terence, Cooper, Nichola, Corris, Paul A A., Furnell, Abigail, Cunningham, Fiona, Curry, Nicola S., Cutler, Antony J., Daniels, Matthew J., Dattani, Mehul, Daugherty, Louise C., Davis, John, De Soyza, Anthony, Dent, Timothy, Deshpande, Charu, Dewhurst, Eleanor F., Douzgou, Sofia, Drazyk, Anna M., Drewe, Elizabeth, Duarte, Daniel, Dutt, Tina, Edgar, J. David M., Edwards, Karen, Egner, William, Ekani, Melanie N., Elliott, Perry, Erber, Wendy N., Erwood, Marie, Estiu, Maria C., Evans, Dafydd Gareth, Evans, Gillian, Everington, Tamara, Eyries, Mélanie, Fassihi, Hiva, Favier, Remi, Findhammer, Jack, Fletcher, Debra, Flinter, Frances A., Floto, R. Andres, Fowler, Tom, Fox, James, Frary, Amy J., French, Courtney E., Freson, Kathleen, Gall, Henning, Ganesan, Vijeya, Gattens, Michael, Geoghegan, Claire, Gerighty, Terence S.A., Gharavi, Ali G., Ghio, Stefano, Ghofrani, Hossein Ardeschir, Gibbs, J. Simon R., Gibson, Kate, Gilmour, Kimberly C., Girerd, Barbara, Gleadall, Nicholas S., Goddard, Sarah, Goldstein, David B., Gomez, Keith, Gordins, Pavels, Gosal, David, Graham, Jodie, Grassi, Luigi, Greenhalgh, Lynn, Greinacher, Andreas, Gresele, Paolo, Griffiths, Philip, Grigoriadou, Sofia, Grocock, Russell J., Grozeva, Detelina, Gurnell, Mark, Hackett, Scott, Hadinnapola, Charaka, Hague, William M., Hague, Rosie, Hall, Matthew, Hanson, Helen L., Haque, Eshika, Harkness, Kirsty, Harper, Andrew R., Harris, Claire L L., Hart, Daniel, Hassan, Ahamad, Hayman, Grant, Henderson, Alex, Herwadkar, Archana, Hoffman, Jonathan, Holden, Simon, Horvath, Rita, Houlden, Henry, Houweling, Arjan C C., Howard, Luke S., Hu, Fengyuan, Hudson, Gavin, Hughes, Joseph, Huissoon, Aarnoud P., Humbert, Marc, Hunter, Sarah, Hurles, Matthew, Irving, Melita, Izatt, Louise, Johnson, Sally A., Jolles, Stephen, Jolley, Jennifer, Josifova, Dragana, Jurkute, Neringa, Karten, Tim, Karten, Johannes, Kasanicki, Mary A., Kazkaz, Hanadi, Kazmi, Rashid, Kelleher, Peter, Kelly, Anne M., Kelsall, Wilf, Kempster, Carly, Kiely, David G., Kingston, Nathalie, Klima, Robert, Koelling, Nils, Kostadima, Myrto, Kovacs, Gabor, Kreuzhuber, Roman, Kuijpers, Taco W., Kumar, Ajith, Kumararatne, Dinakantha, Kurian, Manju A., Lalloo, Fiona, Lambert, Michele, Lawrie, Allan, Layton, D. Mark, Lench, Nick, Lentaigne, Claire, Lester, Tracy, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Louka, Eleni, Lyons, Paul A., Machado, Rajiv D., MacKenzie Ross, Robert V., Madan, Bella, Maimaris, Jesmeen, Malka, Samantha, Mangles, Sarah, Marchbank, Kevin J., Marks, Stephen, Marschall, Hanns Ulrich, Marshall, Andrew, Martin, Jennifer, Mathias, Mary, Matthews, Emma, Maxwell, Heather, McAlinden, Paul, McCarthy, Mark I., McKinney, Harriet, McMahon, Aoife, Meacham, Stuart, Mead, Adam J., Castello, Ignacio Medina, Mehta, Sarju G G., Michaelides, Michel, Millar, Carolyn, Mohammed, Shehla N., Moledina, Shahin, Montani, David, Moore, Anthony T., Mozere, Monika, Muir, Keith W., Nemeth, Andrea H., Newman, William G., Newnham, Michael, Noorani, Sadia, Nurden, Paquita, O’Sullivan, Jennifer, Obaji, Samya, Odhams, Chris, Okoli, Steven, Olschewski, Andrea, Olschewski, Horst, Ong, Kai Ren, Oram, S. Helen, Ouwehand, Willem H., Palles, Claire, Papadia, Sofia, Park, Soo Mi, Parry, David, Patel, Smita, Paterson, Joan, Peacock, Andrew, Pearce, Simon H H., Peden, John, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Petersen, Romina, Pilkington, Clarissa, Poole, Kenneth E.S., Prathalingam, Radhika, Psaila, Bethan, Pyle, Angela, Quinton, Richard, Rahman, Shamima, Rao, Anupama, Raymond, F. Lucy, Rayner-Matthews, Paula J., Rees, Christine, Renton, Tara, Rhodes, Christopher J., Rice, Andrew S.C., Richter, Alex, Robert, Leema, Rogers, Anthony, Rose, Sarah J., Ross-Russell, Robert, Roughley, Catherine, Roy, Noemi B. A, Ruddy, Deborah M., Sadeghi-Alavijeh, Omid, Samani, Nilesh, Samarghitean, Crina, Sargur, Ravishankar B., Sarkany, Robert N., Satchell, Simon, Savic, Sinisa, Sayer, John A., Sayer, Genevieve, Scelsi, Laura, Schaefer, Andrew M., Schulman, Sol, Scott, Richard, Scully, Marie, Searle, Claire, Seeger, Werner, Sen, Arjune, Sewell, W. A.Carrock, Seyres, Denis, Shah, Neil, Shapiro, Susan E., Shaw, Adam C., Short, Patrick J., Sibson, Keith, Side, Lucy, Simeoni, Ilenia, Simpson, Michael A A., Sims, Matthew C., Sivapalaratnam, Suthesh, Smedley, Damian, Smith, Katherine R., Snape, Katie, Soranzo, Nicole, Soubrier, Florent, Southgate, Laura, Spasic-Boskovic, Olivera, Staines, Simon, Staples, Emily, Steward, Charles, Stirrups, Kathleen E., Stuckey, Alex, Suntharalingam, Jay, Swietlik, Emilia M., Syrris, Petros, Tait, R. Campbell, Talks, Kate, Tate, Katie, Taylor, John M., Taylor, Jenny C., Thaventhiran, James E., Thomas, Ellen, Thomas, David, Thomas, Moira J., Thomas, Patrick, Thomson, Kate, Threadgold, Glen, Tilly, Tobias, Tischkowitz, Marc, Titterton, Catherine, Todd, John A., Toh, Cheng Hock, Tolhuis, Bas, Tomlinson, Ian P., Toshner, Mark, Traylor, Matthew, Treacy, Carmen, Treadaway, Paul, Trembath, Richard, Turek, Wojciech, Twiss, Philip, Vale, Tom, Geet, Chris Van, Zuydam, Natalie van, Vandekuilen, Maarten, Vandersteen, Anthony M., Vazquez-Lopez, Marta, von Ziegenweidt, Julie, Vonk Noordegraaf, Anton, Wagner, Annette, Waisfisz, Quinten, Walker, Suellen M., Walker, Neil, Walter, Klaudia, Ware, James S., Watt, Christopher, Wedderburn, Lucy, Wei, Wei, Welch, Steven B., Wessels, Julie, Westbury, Sarah K., Westwood, John Paul, Wharton, John, Whitehorn, Deborah, Wilkie, Andrew O. M, Wilson, Brian T., Wong, Edwin K.S., Wood, Nicholas, Wood, Yvette, Woods, Christopher Geoffrey, Woodward, Emma R R., Wort, Stephen J., Worth, Austen, Wright, Michael, Yates, Katherine, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Yu-Wai-Man, Patrick, Zlamalova, Eliska
المساهمون: University of Cambridge [UK] (CAM), John Wyeth & Brother Limited, Medical Research Council (MRC), Wellcome Trust, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Landsteiner Laboratory, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Project, NIHR BioResource for the 100,000 Genomes
المصدر: Nature
Nature, Nature Publishing Group, 2020, 583 (7814), pp.96-102. ⟨10.1038/s41586-020-2434-2⟩
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Bennett, D L, Bueser, T, Carr-White, G, Flinter, F A, Irving, M, Josifova, D, Koziell, A, Mohammed, S N, Thomas, E, Traylor, M & Trembath, R & Williamson, C 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2Test
Turro, E, Astle, W J, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, H L, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, O S, Downes, K, Haimel, M, Tuna, S, Deevi, S V V, Aitman, T J, Bennett, D L, Calleja, P, Carss, K, Caulfield, M J, Chinnery, P F, Dixon, P H, Gale, D P, James, R, Koziell, A, Laffan, M A, Levine, A P, Maher, E R, Markus, H S, Morales, J, Morrell, N W, Mumford, A D, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, N B A, Saleem, M A, Smith, K G C, Stark, H, Tan, R Y Y, Themistocleous, A C, Thrasher, A J, Watkins, H, Webster, A R, Wilkins, M R, Williamson, C, Whitworth, J, Humphray, S, Bentley, D R, Abbs, S, Abulhoul, L, Adlard, J, Ahmed, M, Aitman, T J, Alachkar, H, Allsup, D J, Almeida-King, J, Ancliff, P, Antrobus, R, Armstrong, R, Arno, G, Ashford, S, Astle, W J, Attwood, A, Aurora, P, Babbs, C, Bacchelli, C, Bakchoul, T, Banka, S, Bariana, T, Barwell, J, Batista, J, Baxendale, H E, Beales, P L, Bennett, D L, Bentley, D R, Bierzynska, A, Biss, T, Bitner-Glindzicz, M A K, Black, G C, Bleda, M, Blesneac, I, Bockenhauer, D, Bogaard, H, Bourne, C J, Boyce, S, Bradley, J R, Bragin, E, Breen, G, Brennan, P, Brewer, C, Brown, M, Browning, A C, Browning, M J, Buchan, R J, Buckland, M S, Bueser, T, Diz, C B, Burn, J, Burns, S O, Burren, O S, Burrows, N, Calleja, P, Campbell, C, Carr-White, G, Carss, K, Casey, R, Caulfield, M J, Chambers, J, Chambers, J, Chan, M M Y, Cheah, C, Cheng, F, Chinnery, P F, Chitre, M, Christian, M T, Church, C, Clayton-Smith, J, Cleary, M, Brod, N C, Coghlan, G, Colby, E, Cole, T R P, Collins, J, Collins, P W, Colombo, C, Compton, C J, Condliffe, R, Cook, S, Cook, H T, Cooper, N, Corris, PA A, Furnell, A, Cunningham, F, Curry, N S, Cutler, A J, Daniels, M J, Dattani, M, Daugherty, L C, Davis, J, De Soyza, A, Deevi, S V V, Dent, T, Deshpande, C, Dewhurst, E F, Dixon, P H, Douzgou, S, Downes, K, Drazyk, A M, Drewe, E, Duarte, D, Dutt, T, Edgar, J D M, Edwards, K, Egner, W, Ekani, M N, Elliott, P, Erber, W N, Erwood, M, Estiu, M C, Evans, D G, Evans, G, Everington, T, Eyries, M, Fassihi, H, Favier, R, Findhammer, J, Fletcher, D, Flinter, F A, Floto, R A, Fowler, T, Fox, J, Frary, A J, French, C E, Freson, K, Frontini, M, Gale, D P, Gall, H, Ganesan, V, Gattens, M, Geoghegan, C, Gerighty, T S A, Gharavi, A G, Ghio, S, Ghofrani, H A, Gibbs, J S R, Gibson, K, Gilmour, K C, Girerd, B, Gleadall, N S, Goddard, S, Goldstein, D B, Gomez, K, Gordins, P, Gosal, D, Gräf, S, Graham, J, Grassi, L, Greene, D, Greenhalgh, L, Greinacher, A, Gresele, P, Griffiths, P, Grigoriadou, S, Grocock, R J, Grozeva, D, Gurnell, M, Hackett, S, Hadinnapola, C, Hague, W M, Hague, R, Haimel, M, Hall, M, Hanson, H L, Haque, E, Harkness, K, Harper, A R, Harris, CL L, Hart, D, Hassan, A, Hayman, G, Henderson, A, Herwadkar, A, Hoffman, J, Holden, S, Horvath, R, Houlden, H, Houweling, AC C, Howard, L S, Hu, F, Hudson, G, Hughes, J, Huissoon, A P, Humbert, M, Humphray, S, Hunter, S, Hurles, M, Irving, M, Izatt, L, James, R, Johnson, S A, Jolles, S, Jolley, J, Josifova, D, Jurkute, N, Karten, T, Karten, J, Kasanicki, M A, Kazkaz, H, Kazmi, R, Kelleher, P, Kelly, A M, Kelsall, W, Kempster, C, Kiely, D G, Kingston, N, Klima, R, Koelling, N, Kostadima, M, Kovacs, G, Koziell, A, Kreuzhuber, R, Kuijpers, T W, Kumar, A, Kumararatne, D, Kurian, M A, Laffan, M A, Lalloo, F, Lambert, M, Allen, H L, Lawrie, A, Layton, D M, Lench, N, Lentaigne, C, Lester, T, Levine, A P, Linger, R, Longhurst, H, Lorenzo, L E, Louka, E, Lyons, P A, Machado, R D, MacKenzie Ross, R V, Madan, B, Maher, E R, Maimaris, J, Malka, S, Mangles, S, Mapeta, R, Marchbank, K J, Marks, S, Markus, H S, Marschall, H U, Marshall, A, Martin, J, Mathias, M, Matthews, E, Maxwell, H, McAlinden, P, McCarthy, M I, McKinney, H, McMahon, A, Meacham, S, Mead, A J, Castello, I M, Megy, K, Mehta, SG G, Michaelides, M, Millar, C, Mohammed, S N, Moledina, S, Montani, D, Moore, A T, Morales, J, Morrell, N W, Mozere, M, Muir, K W, Mumford, A D, Nemeth, A H, Newman, W G, Newnham, M, Noorani, S, Nurden, P, O’Sullivan, J, Obaji, S, Odhams, C, Okoli, S, Olschewski, A, Olschewski, H, Ong, K R, Oram, S H, Ormondroyd, E, Ouwehand, W H, Palles, C, Papadia, S, Park, S M, Parry, D, Patel, S, Paterson, J, Peacock, A, Pearce, SH H, Peden, J, Peerlinck, K, Penkett, C J, Pepke-Zaba, J, Petersen, R, Pilkington, C, Poole, K E S, Prathalingam, R, Psaila, B, Pyle, A, Quinton, R, Rahman, S, Rankin, S, Rao, A, Raymond, F L, Rayner-Matthews, P J, Rees, C, Rendon, A, Renton, T, Rhodes, C J, Rice, A S C, Richardson, S, Richter, A, Robert, L, Roberts, I, Rogers, A, Rose, S J, Ross-Russell, R, Roughley, C, Roy, N B A, Ruddy, D M, Sadeghi-Alavijeh, O, Saleem, M A, Samani, N, Samarghitean, C, Sanchis-Juan, A, Sargur, R B, Sarkany, R N, Satchell, S, Savic, S, Sayer, J A, Sayer, G, Scelsi, L, Schaefer, A M, Schulman, S, Scott, R, Scully, M, Searle, C, Seeger, W, Sen, A, Sewell, W A C, Seyres, D, Shah, N, Shamardina, O, Shapiro, S E, Shaw, A C, Short, P J, Sibson, K, Side, L, Simeoni, I, Simpson, MA A, Sims, M C, Sivapalaratnam, S, Smedley, D, Smith, K R, Smith, K G C, Snape, K, Soranzo, N, Soubrier, F, Southgate, L, Spasic-Boskovic, O, Staines, S, Staples, E, Stark, H, Stephens, J, Steward, C, Stirrups, K E, Stuckey, A, Suntharalingam, J, Swietlik, E M, Syrris, P, Tait, R C, Talks, K, Tan, R Y Y, Tate, K, Taylor, J M, Taylor, J C, Thaventhiran, J E, Themistocleous, A C, Thomas, E, Thomas, D, Thomas, M J, Thomas, P, Thomson, K, Thrasher, A J, Threadgold, G, Thys, C, Tilly, T, Tischkowitz, M, Titterton, C, Todd, J A, Toh, C H, Tolhuis, B, Tomlinson, I P, Toshner, M, Traylor, M, Treacy, C, Treadaway, P, Trembath, R, Tuna, S, Turek, W, Turro, E, Twiss, P, Vale, T, Geet, C V, Zuydam, N V, Vandekuilen, M, Vandersteen, A M, Vazquez-Lopez, M, von Ziegenweidt, J, Vonk Noordegraaf, A, Wagner, A, Waisfisz, Q, Walker, S M, Walker, N, Walter, K, Ware, J S, Watkins, H, Watt, C, Webster, A R, Wedderburn, L, Wei, W, Welch, S B, Wessels, J, Westbury, S K, Westwood, J P, Wharton, J, Whitehorn, D, Whitworth, J, Wilkie, A O M, Wilkins, M R, Williamson, C, Wilson, B T, Wong, E K S, Wood, N, Wood, Y, Woods, C G, Woodward, ER R, Wort, S J, Worth, A, Wright, M, Yates, K, Yong, P F K, Young, T, Yu, P, Yu-Wai-Man, P, Zlamalova, E, Kingston, N, Walker, N, Bradley, J R, Ashford, S, Penkett, C J, Freson, K, Stirrups, K E, Raymond, F L, Ouwehand, W H & NIHR BioResource for the 100,000 Genomes Project 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2Test
Daniels, M J & Evans, D G 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature (London), vol. 583, no. 7814, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2Test
Nature, 583(7814), 96-102. Nature Publishing Group
Turro, E, Mumford, A D, Saleem, M A & al., E 2020, ' Whole-genome sequencing of patients with rare diseases in a national health system ', Nature, vol. 583, pp. 96-102 . https://doi.org/10.1038/s41586-020-2434-2Testمصطلحات موضوعية: 0301 basic medicine, Erythrocytes, Internationality, Databases, Factual, National Health Programs, [SDV]Life Sciences [q-bio], Disease, VARIANTS, Genome, State Medicine, NIHR BioResource for the 100,000 Genomes Project, 0302 clinical medicine, Medicine, GATA1 Transcription Factor, Genetics, Multidisciplinary, Translational bioinformatics, ASSOCIATION, 3. Good health, Multidisciplinary Sciences, Phenotype, 030220 oncology & carcinogenesis, disease genetics, Medical genetics, Science & Technology - Other Topics, Receptors, Thrombopoietin, medicine.medical_specialty, General Science & Technology, Quantitative Trait Loci, Genomics, Computational biology, Biology, DIAGNOSIS, computational biology and bioinformatics, Actin-Related Protein 2-3 Complex, Article, LRBA, LINKS, 03 medical and health sciences, Rare Diseases, Humans, Alleles, Adaptor Proteins, Signal Transducing, Whole genome sequencing, National health, Science & Technology, Whole Genome Sequencing, MUTATIONS, business.industry, THROMBOCYTOPENIA, United Kingdom, MACROTHROMBOCYTOPENIA, genetics research, 030104 developmental biology, business, Rare disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::437fe31a28fdf42305d3bfbf9de3f53dTest
https://doi.org/10.1530/ey.18.14.6Test -
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المؤلفون: Zhu, Na, Swietlik, Emilia M., Welch, Carrie L., Pauciulo, Michael W., Hagen, Jacob J., Zhou, Xueya, Guo, Yicheng, Karten, Johannes, Pandya, Divya, Tilly, Tobias, Lutz, Katie A., Martin, Jennifer M., Treacy, Carmen M., Rosenzweig, Erika B., Krishnan, Usha, Coleman, Anna W., Gonzaga-Jauregui, Claudia, Lawrie, Allan, Trembath, Richard C., Wilkins, Martin R., Morrell, Nicholas W., Shen, Yufeng, Gräf, Stefan, Nichols, William C., Chung, Wendy K., Hirsch, Russel, White, R. James, Simon, Marc, Badesch, David, Rosenzweig, Erika, Burger, Charles, Chakinala, Murali, Thenappan, Thenappan, Elliott, Greg, Simms, Robert, Farber, Harrison, Frantz, Robert, Elwing, Jean, Hill, Nicholas, Ivy, Dunbar, Klinger, James, Nathan, Steven, Oudiz, Ronald, Robbins, Ivan, Schilz, Robert, Fortin, Terry, Wilt, Jeffrey, Yung, Delphine, Austin, Eric, Ahmad, Ferhaan, Bhatt, Nitin, Lahm, Tim, Frost, Adaani, Safdar, Zeenat, Rehman, Zia, Walter, Robert, Torres, Fernando, Bakshi, Sahil, Archer, Stephen, Argula, Rahul, Barnett, Christopher, Benza, Raymond, Desai, Ankit, Maddipati, Veeranna, Bogaard, Harm J., Church, Colin, Coghlin, Gerry, Condliffe, Robin, Eyries, Mélanie, Gall, Henning, Ghio, Stefano, Girerd, Barbara, Holden, Simon, Howard, Luke, Humbert, Marc, Kiely, David G., Kovacs, Gabor, Lordan, Jim, Machado, Rajiv D., MacKenzie Ross, Robert V., McCabe, Colm, Moledina, Shahin, Montani, David, Olschewski, Horst, Penkett, Christopher J., Pepke-Zaba, Joanna, Price, Laura, Rhodes, Christopher J., Seeger, Werner, Soubrier, Florent, Southgate, Laura, Suntharalingam, Jay, Swift, Andrew J., Toshner, Mark R., Noordegraaf, Anton Vonk, Wharton, John, Wild, Jim, Wort, Stephen John
المساهمون: Apollo - University of Cambridge Repository
مصطلحات موضوعية: Exome sequencing, Case-control association testing, Research, FOS: Biological sciences, Genetics, De novo variant analysis, Pulmonary arterial hypertension, Genome sequencing
وصف الملف: application/pdf; application/zip; text/xml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e615a78be163f9ca786b8d10056b9f7aTest
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5دورية أكاديمية
المؤلفون: Leithner, Katharina, Wohlkoenig, Christoph, Stacher, Elvira, Lindenmann, Jörg, Hofmann, Nicole A, Gallé, Birgit, Guelly, Christian, Quehenberger, Franz, Stiegler, Philipp, Smolle-Jüttner, Freyja-Maria, Philipsen, Sjaak, Popper, Helmut H, Hrzenjak, Andelko, Olschewski, Andrea, Olschewski, Horst
المصدر: BMC Cancer ; volume 14, issue 1 ; ISSN 1471-2407
مصطلحات موضوعية: Cancer Research, Genetics, Oncology
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6
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, 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Natureمصطلحات 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 -
7دورية أكاديمية
المؤلفون: Grünig, Ekkehard, Weissmann, Sylvia, Ehlken, Nicola, Fijalkowska, Anna, Fischer, Christine, Fourme, Thierry, Galie, Nazzareno, Ghofrani, Ardeschir, Harrison, Rachel E, Huez, Sandrine, Humbert, Marc, Janssen, Bart, Kober, Jaroslaw, Koehler, Rolf, Machado, Rajiv D, Mereles, Derliz, Naeije, Robert, Olschewski, Horst, Provencher, Steeve, Reichenberger, Frank, Retailleau, Kathleen, Rocchi, Guido, Simonneau, Gerald, Torbicki, Adam, Trembath, Richard C, Seeger, Werner
المصدر: Circulation, 119 (13
مصطلحات موضوعية: Pneumologie, Sciences bio-médicales et agricoles, Echocardiography, stress, Genetics, Hypertension, Pulmonary heart disease, Pulmonary hypoxia
وصف الملف: No full-text files
العلاقة: uri/info:doi/10.1161/CIRCULATIONAHA.108.800938; uri/info:scp/65349136490; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/86204Test
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8دورية أكاديمية
المؤلفون: Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.
مصطلحات موضوعية: Genetics(clinical), Genetics
العلاقة: https://nottingham-repository.worktribe.com/output/1377912Test; Human Mutation; Volume 27; Issue 2; Pagination 121-132
الإتاحة: https://doi.org/10.1002/humu.20285Test
https://nottingham-repository.worktribe.com/output/1377912Test -
9دورية أكاديمية
المؤلفون: Leithner, Katharina, Hirschmugl, Birgit, Li, Yingji, Tang, Bi, Papp, Rita, Nagaraj, Chandran, Stacher, Elvira, Stiegler, Philipp, Lindenmann, Jörg, Olschewski, Andrea, Olschewski, Horst, Hrzenjak, Andelko
المصدر: PLoS ONE; 6/13/2016, Vol. 11 Issue 6, p1-18, 18p
مصطلحات موضوعية: NON-small-cell lung carcinoma, CANCER treatment, APOPTOSIS, CANCER cell proliferation, CANCER-related mortality, DEPOLARIZATION (Cytology), GENETIC overexpression