المؤلفون: Shaw, Emogene, Flitcroft, Ian, Bowman, Richard, Baker, Kate, Genomics England Research Consortium, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Brown, Matthew A, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Giess, Adam, Griffin, John N, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim JP, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah EA, Leong, Ivonne US, Lopez, Javier F, Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Melanie, Tavares, Ana LisaTaylor, Thomas, Ellen RA, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M, Zarowiecki, Magdalena

مصطلحات موضوعية: Vision science

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/61/6/605Test; http://dx.doi.org/10.1136/jmg-2023-109670Test

الإتاحة: https://doi.org/10.1136/jmg-2023-109670Test
http://jmg.bmj.com/cgi/content/short/61/6/605Test

المؤلفون: Olinger, Eric, Wilson, Ian J., Orr, Sarah, Barroso-Gil, Miguel, Neatu, Ruxandra, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander

المساهمون: Kidney Research UK, Swiss National Science Foundation, Northern Counties Kidney Research Fund, LifeArc, Medical Research Council

المصدر: Genetics in Medicine Open ; volume 2, page 101834 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.101834Test
https://api.elsevier.com/content/article/PII:S2949774424009804?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774424009804?httpAccept=text/plainTest

المؤلفون: Nolan, Joshua, Buchanan, James, Taylor, John, Almeida, Joao, Bedenham, Tina, Blair, Edward, Broadgate, Suzanne, Butler, Samantha, Cazeaux, Angela, Craft, Judith, Cranston, Treena, Crawford, Gillian, Forrest, Jamie, Gabriel, Jessica, George, Elaine, Gillen, Donna, Haeger, Ash, Hastings Ward, Jillian, Hawkes, Lara, Hodgkiss, Claire, Hoffman, Jonathan, Jones, Alan, Karpe, Fredrik, Kasperaviciute, Dalia, Kovacs, Erika, Leigh, Sarah, Limb, Elizabeth, Lloyd-Jani, Anjali, Lopez, Javier, Lucassen, Anneke, McFarlane, Carlos, O’Rourke, Anthony W., Pond, Emily, Sherman, Catherine, Stewart, Helen, Thomas, Ellen, Thomas, Simon, Thomas, Tessy, Thomson, Kate, Wakelin, Hannah, Walker, Susan, Watson, Melanie, Williams, Eleanor, Ormondroyd, Elizabeth

المساهمون: Wellcome Trust, NIHR Oxford Biomedical Research Centre

المصدر: Genetics in Medicine ; volume 26, issue 3, page 101051 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.101051Test
https://api.elsevier.com/content/article/PII:S1098360023010675?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010675?httpAccept=text/plainTest

المؤلفون: Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael

المساهمون: NIDDK, DFG, BMBF Berlin

المصدر: Gastroenterology ; volume 166, issue 5, page 902-914 ; ISSN 0016-5085

مصطلحات موضوعية: Gastroenterology, Hepatology

الإتاحة: https://doi.org/10.1053/j.gastro.2023.12.007Test
https://api.elsevier.com/content/article/PII:S0016508523056032?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0016508523056032?httpAccept=text/plainTest

المؤلفون: Grasby, Katrina L, Jahanshad, Neda, Painter, Jodie N, Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P, Lind, Penelope A, Pizzagalli, Fabrizio, Ching, Christopher RK, McMahon, Mary Agnes B, Shatokhina, Natalia, Zsembik, Leo CP, Thomopoulos, Sophia I, Zhu, Alyssa H, Strike, Lachlan T, Agartz, Ingrid, Alhusaini, Saud, Almeida, Marcio AA, Alnæs, Dag, Amlien, Inge K, Andersson, Micael, Ard, Tyler, Armstrong, Nicola J, Ashley-Koch, Allison, Atkins, Joshua R, Bernard, Manon, Brouwer, Rachel M, Buimer, Elizabeth EL, Bülow, Robin, Bürger, Christian, Cannon, Dara M, Chakravarty, Mallar, Chen, Qiang, Cheung, Joshua W, Couvy-Duchesne, Baptiste, Dale, Anders M, Dalvie, Shareefa, de Araujo, Tânia K, de Zubicaray, Greig I, de Zwarte, Sonja MC, Braber, Anouk den, Doan, Nhat Trung, Dohm, Katharina, Ehrlich, Stefan, Engelbrecht, Hannah-Ruth, Erk, Susanne, Fan, Chun Chieh, Fedko, Iryna O, Foley, Sonya F, Ford, Judith M, Fukunaga, Masaki, Garrett, Melanie E, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Green, Melissa J, Groenewold, Nynke A, Grotegerd, Dominik, Gurholt, Tiril P, Gutman, Boris A, Hansell, Narelle K, Harris, Mathew A, Harrison, Marc B, Haswell, Courtney C, Hauser, Michael, Herms, Stefan, Heslenfeld, Dirk J, Ho, New Fei, Hoehn, David, Hoffmann, Per, Holleran, Laurena, Hoogman, Martine, Hottenga, Jouke-Jan, Ikeda, Masashi, Janowitz, Deborah, Jansen, Iris E, Jia, Tianye, Jockwitz, Christiane, Kanai, Ryota, Karama, Sherif, Kasperaviciute, Dalia, Kaufmann, Tobias, Kelly, Sinead, Kikuchi, Masataka, Klein, Marieke, Knapp, Michael, Knodt, Annchen R, Krämer, Bernd, Lam, Max, Lancaster, Thomas M, Lee, Phil H, Lett, Tristram A, Lewis, Lindsay B, Lopes-Cendes, Iscia, Luciano, Michelle, Macciardi, Fabio, Marquand, Andre F, Mathias, Samuel R, Melzer, Tracy R, Milaneschi, Yuri

المصدر: Science. 367(6484)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Mental Health, Brain Disorders, Stem Cell Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Attention Deficit Disorder with Hyperactivity, Brain Mapping, Cerebral Cortex, Cognition, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Organ Size, Parkinson Disease, Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN Consortium, IMAGEN Consortium, SYS Consortium, Parkinson’s Progression Markers Initiative, Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group, General Science & Technology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5w38t2hpTest

المؤلفون: Satizabal, Claudia L, Adams, Hieab HH, Hibar, Derrek P, White, Charles C, Knol, Maria J, Stein, Jason L, Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V, Smith, Albert V, Bis, Joshua C, Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J, Yang, Jingyun, Yanek, Lisa R, Lee, Tom V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D, Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E, Kim, Sungeun, Hoehn, David, Armstrong, Nicola J, Chen, Qiang, Holmes, Avram J, den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santiañez, Roberto, Kraemer, Bernd, Håberg, Asta K, Jones, Hannah J, Pike, G Bruce, Stein, Dan J, Stevens, Allison, Bralten, Janita, Vernooij, Meike W, Harris, Tamara B, Filippi, Irina, Witte, A Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H, Becker, James T, Doan, Nhat Trung, Hagenaars, Saskia P, Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M, Ames, David, Goldman, Aaron L, Lee, Phil H, Boomsma, Dorret I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M, Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M, Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E, Shin, Jean, Ipser, Jonathan C, Vinke, Louis N, Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K, Aribisala, Benjamin S, Schmidt, Helena

المصدر: Nature Genetics. 51(11)

مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Biotechnology, Mental Health, Human Genome, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Aged, Animals, Brain, Cohort Studies, Drosophila melanogaster, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Middle Aged, Neurodevelopmental Disorders, Organ Size, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3zm3r0pmTest

المؤلفون: Stevelink, Remi, Campbell, Ciarán, Chen, Siwei, Abou-Khalil, Bassel, Adesoji, Oluyomi M., Afawi, Zaid, Amadori, Elisabetta, Anderson, Alison, Anderson, Joseph, Andrade, Danielle M., Annesi, Grazia, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Baker, Mark D., Balagura, Ganna, Balestrini, Simona, Barba, Carmen, Barboza, Karen, Bartolomei, Fabrice, Bast, Thomas, Baum, Larry, Baumgartner, Tobias, Baykan, Betül, Bebek, Nerses, Becker, Albert J., Becker, Felicitas, Bennett, Caitlin A., Berghuis, Bianca, Berkovic, Samuel F., Beydoun, Ahmad, Bianchini, Claudia, Bisulli, Francesca, Blatt, Ilan, Bobbili, Dheeraj Reddy, Borggraefe, Ingo, Bosselmann, Christian, Braatz, Vera, Bradfield, Jonathan P., Brockmann, Knut, Brody, Lawrence C., Buono, Russell J., Busch, Robyn M., Caglayan, Hande, Campbell, Ellen, Canafoglia, Laura, Canavati, Christina, Cascino, Gregory D., Castellotti, Barbara, Catarino, Claudia B., Cavalleri, Gianpiero L., Cerrato, Felecia, Chassoux, Francine, Cherny, Stacey S., Cheung, Ching-Lung, Chinthapalli, Krishna, Chou, I.-Jun, Chung, Seo-Kyung, Churchhouse, Claire, Clark, Peggy O., Cole, Andrew J., Compston, Alastair, Coppola, Antonietta, Cosico, Mahgenn, Cossette, Patrick, Craig, John J., Cusick, Caroline, Daly, Mark J., Davis, Lea K., de Haan, Gerrit-Jan, Delanty, Norman, Depondt, Chantal, Derambure, Philippe, Devinsky, Orrin, Di Vito, Lidia, Dlugos, Dennis J., Doccini, Viola, Doherty, Colin P., El-Naggar, Hany, Elger, Christian E., Ellis, Colin A., Eriksson, Johan G., Faucon, Annika, Feng, Yen-Chen A., Ferguson, Lisa, Ferraro, Thomas N., Ferri, Lorenzo, Feucht, Martha, Fitzgerald, Mark, Fonferko-Shadrach, Beata, Fortunato, Francesco, Franceschetti, Silvana, Franke, Andre, French, Jacqueline A., Freri, Elena, Gagliardi, Monica, Gambardella, Antonio, Geller, Eric B., Giangregorio, Tania, Gjerstad, Leif, Glauser, Tracy, Goldberg, Ethan, Goldman, Alicia, Granata, Tiziana, Greenberg, David A., Guerrini, Renzo, Gupta, Namrata, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Hassanin, Emadeldin Saeed Fathy Sayed, Hegde, Manu, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Heyne, Henrike O., Hirose, Shinichi, Hirsch, Edouard, Hjalgrim, Helle, Howrigan, Daniel P., Hucks, Donald, Hung, Po-Cheng, Iacomino, Michele, Imbach, Lukas L., Inoue, Yushi, Ishii, Atsushi, Jamnadas-Khoda, Jennifer, Jehi, Lara, Johnson, Michael R., Kälviäinen, Reetta, Kamatani, Yoichiro, Kanaan, Moien, Kanai, Masahiro, Kantanen, Anne-Mari, Kara, Bülent, Kariuki, Symon M., Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kato, Mitsuhiro, Kegele, Josua, Kesim, Yeşim, Khoueiry-Zgheib, Nathalie, King, Chontelle, Kirsch, Heidi E., Klein, Karl M., Kluger, Gerhard, Knake, Susanne, Knowlton, Robert C., Koeleman, Bobby P. C., Korczyn, Amos D., Koupparis, Andreas, Kousiappa, Ioanna, Krause, Roland, Krenn, Martin, Krestel, Heinz, Krey, Ilona, Kunz, Wolfram S., Kurki, Mitja I., Kurlemann, Gerhard, Kuzniecky, Ruben, Kwan, Patrick, Labate, Angelo, Lacey, Austin, Lal, Dennis, Landoulsi, Zied, Lau, Yu-Lung, Lauxmann, Stephen, Leech, Stephanie L., Lehesjoki, Anna-Elina, Lemke, Johannes R., Lerche, Holger, Lesca, Gaetan, Leu, Costin, Lewin, Naomi, Lewis-Smith, David, Li, Gloria H.-Y., Li, Qingqin S., Licchetta, Laura, Lin, Kuang-Lin, Lindhout, Dick, Linnankivi, Tarja, Lopes-Cendes, Iscia, Lowenstein, Daniel H., Lui, Colin H. T., Madia, Francesca, Magnusson, Sigurdur, Marson, Anthony G., May, Patrick, McGraw, Christopher M., Mei, Davide, Mills, James L., Minardi, Raffaella, Mirza, Nasir, Møller, Rikke S., Molloy, Anne M., Montomoli, Martino, Mostacci, Barbara, Muccioli, Lorenzo, Muhle, Hiltrud, Müller-Schlüter, Karen, Najm, Imad M., Nasreddine, Wassim, Neale, Benjamin M., Neubauer, Bernd, Newton, Charles R. J. C., Nöthen, Markus M., Nothnagel, Michael, Nürnberg, Peter, O’Brien, Terence J., Okada, Yukinori, Ólafsson, Elías, Oliver, Karen L., Özkara, Çiğdem, Palotie, Aarno, Pangilinan, Faith, Papacostas, Savvas S., Parrini, Elena, Pato, Carlos N., Pato, Michele T., Pendziwiat, Manuela, Petrovski, Slavé, Pickrell, William O., Pinsky, Rebecca, Pippucci, Tommaso, Poduri, Annapurna, Pondrelli, Federica, Powell, Rob H. W., Privitera, Michael, Rademacher, Annika, Radtke, Rodney, Ragona, Francesca, Rau, Sarah, Rees, Mark I., Regan, Brigid M., Reif, Philipp S., Rhelms, Sylvain, Riva, Antonella, Rosenow, Felix, Ryvlin, Philippe, Saarela, Anni, Sadleir, Lynette G., Sander, Josemir W., Sander, Thomas, Scala, Marcello, Scattergood, Theresa, Schachter, Steven C., Schankin, Christoph J., Scheffer, Ingrid E., Schmitz, Bettina, Schoch, Susanne, Schubert-Bast, Susanne, Schulze-Bonhage, Andreas, Scudieri, Paolo, Sham, Pak, Sheidley, Beth R., Shih, Jerry J., Sills, Graeme J., Sisodiya, Sanjay M., Smith, Michael C., Smith, Philip E., Sonsma, Anja C. M., Speed, Doug, Sperling, Michael R., Stefansson, Hreinn, Stefansson, Kári, Steinhoff, Bernhard J., Stephani, Ulrich, Stewart, William C., Stipa, Carlotta, Striano, Pasquale, Stroink, Hans, Strzelczyk, Adam, Surges, Rainer, Suzuki, Toshimitsu, Tan, K. Meng, Taneja, R. S., Tanteles, George A., Taubøll, Erik, Thio, Liu Lin, Thomas, G. Neil, Thomas, Rhys H., Timonen, Oskari, Tinuper, Paolo, Todaro, Marian, Topaloğlu, Pınar, Tozzi, Rossana, Tsai, Meng-Han, Tumiene, Birute, Turkdogan, Dilsad, Unnsteinsdóttir, Unnur, Utkus, Algirdas, Vaidiswaran, Priya, Valton, Luc, van Baalen, Andreas, Vetro, Annalisa, Vining, Eileen P. G., Visscher, Frank, von Brauchitsch, Sophie, von Wrede, Randi, Epilepsies, International League Against Epilepsy Consortium On Complex

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: Nature Genetics (2023-07-31)

مصطلحات موضوعية: Epilepsy, GWAS, sub-phenotypes, Life sciences, Genetics & genetic processes, Human health sciences, Neurology, Sciences du vivant, Génétique & processus génétiques, Sciences de la santé humaine, Neurologie

العلاقة: https://doi.org/10.1038/s41588-023-01485-wTest; FNR16394868 - Epileptogenesis Of Genetic Epilepsies, 2021 (01/10/2021-.) - Alexander Skupin; urn:issn:1546-1718; https://orbilu.uni.lu/handle/10993/56044Test; info:hdl:10993/56044; https://orbilu.uni.lu/bitstream/10993/56044/1/ILAE.GWAS.NatGenet.2023.pdfTest; scopus-id:2-s2.0-85169457451; info:pmid:37653029

الإتاحة: https://doi.org/10.1038/s41588-023-01485-wTest
https://orbilu.uni.lu/handle/10993/56044Test
https://orbilu.uni.lu/bitstream/10993/56044/1/ILAE.GWAS.NatGenet.2023.pdfTest

المؤلفون: Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Null-, U, Berg, Thomas, Patterson, Ilse, Griffiths, William, J, Sayer, John, A, Popp, Bernt, Torres, Vicente, E, Hogan, Marie, C, Somlo, Stefan, Watnick, Terry, J, Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter, C, Drenth, Joost, P H, Halbritter, Jan, Ambrose, John, C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher, R, Brittain, Helen, Caulfield, Mark, J, Chan, Georgia, C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim, J P, Jackson, Rob, Jones, Louise, J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah, E A, Leong, Ivonne, U S, Lopez, Javier, F, Maleady-Crowe, Fiona, Mcentagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna, C, O’donovan, Peter, Odhams, Chris, A, Patch, Christine, Pereira, Mariana, Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard, H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel, C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana, Lisa, Thomas, Ellen, R A, Thompson, Simon, R, Tucci, Arianna, Welland, Matthew, J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne, M

المساهمون: University Hospital Leipzig = Universitätsklinikum Leipzig, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), University Hospital Freiburg, Karlsruhe Institute of Technology (KIT)

المصدر: ISSN: 0016-5085.

مصطلحات موضوعية: ADPKD, autosomal dominant polycystic kidney disease ADPLD, autosomal dominant polycystic liver disease CT, computed tomography HR, hazard ratio MIM, Mendelian Inheritance in Man MRI, magnetic resonance imaging PG, progression group nTLV, normalized total liver volume, autosomal dominant polycystic kidney disease, ADPLD, autosomal dominant polycystic liver disease, CT, computed tomography, HR, hazard ratio, MIM, Mendelian Inheritance in Man, MRI, magnetic resonance imaging, PG, progression group, nTLV, [SDV]Life Sciences [q-bio]

العلاقة: hal-04503087; https://hal.science/hal-04503087Test; https://hal.science/hal-04503087/documentTest; https://hal.science/hal-04503087/file/1-s2.0-S0016508523056032-main.pdfTest

الإتاحة: https://doi.org/10.1053/j.gastro.2023.12.007Test
https://hal.science/hal-04503087Test
https://hal.science/hal-04503087/documentTest
https://hal.science/hal-04503087/file/1-s2.0-S0016508523056032-main.pdfTest

المؤلفون: Martins Custodio, Helena, Clayton, Lisa M, Bellampalli, Ravishankara, Pagni, Susanna, Silvennoinen, Katri, Caswell, Richard, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Brown, Matthew A, Caulfield, Mark J, Chan, Georgia C, Giess, Adam, Griffin, John N, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J. P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E. A, Leong, Ivonne U. S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Tavares, Ana Lisa Taylor, Thomas, Ellen R. A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M, Zarowiecki, Magdalena, Brunklaus, Andreas, Guerrini, Renzo, Koeleman, Bobby P C, Lemke, Johannes R, Møller, Rikke S, Scheffer, Ingrid E, Weckhuysen, Sarah, Zara, Federico, Zuberi, Sameer, Kuchenbaecker, Karoline, Balestrini, Simona, Mills, James D, Sisodiya, Sanjay M

وصف الملف: text

العلاقة: https://eprints.gla.ac.uk/296305/1/296305.pdfTest; Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain , (doi:10.1093/brain/awad111 ) (PMID:37006128) (Early Online Publication)

الإتاحة: https://doi.org/10.1093/brain/awad111Test
https://eprints.gla.ac.uk/296305Test/
https://eprints.gla.ac.uk/296305/1/296305.pdfTest

المؤلفون: Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Genomics England Research Consortium, Black, Graeme C, Ellingford, Jamie M

المصدر: Journal of Medical Genetics (2023) (In press).

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10163851/1/jmg-2022-108618.full.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10163851Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10163851/1/jmg-2022-108618.full.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10163851Test/