المؤلفون: Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Banka, Siddharth, Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E., Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., Lakhani, Saquib A., Borras, Silvia

المساهمون: NIH, Hartwell Foundation, Wellcome Trust, Horizon 2020, National Institute for Health Research, Cancer Research UK, Epilepsy Society

المصدر: Genetics in Medicine ; volume 26, issue 2, page 101023 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.101023Test
https://api.elsevier.com/content/article/PII:S1098360023010390?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010390?httpAccept=text/plainTest

المؤلفون: Allen, James P, Garber, Kathryn B, Perszyk, Riley, Khayat, Cara T, Kell, Steven A, Kaneko, Maki, Quindipan, Catherine, Saitta, Sulagna, Ladda, Roger L, Hewson, Stacy, Inbar-Feigenberg, Michal, Prasad, Chitra, Prasad, Asuri N, Olewiler, Leah, Mu, Weiyi, Rosenthal, Liana S, Scala, Marcello, Striano, Pasquale, Zara, Federico, McCullock, Tyler W, Jauss, Robin-Tobias, Lemke, Johannes R, MacLean, David M, Zhu, Cheng, Yuan, Hongjie, Myers, Scott J, Traynelis, Stephen F

المساهمون: National Institutes of Health, NIGMS, NINDS

المصدر: Human Molecular Genetics ; volume 33, issue 4, page 355-373 ; ISSN 0964-6906 1460-2083

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1093/hmg/ddad188Test
https://academic.oup.com/hmg/article-pdf/33/4/355/56534175/ddad188.pdfTest

المؤلفون: Dickson, Megan A., Zahavich, Laura, Rush, Janet, Hewson, Stacy, Chitayat, David, McCrindle, Brian W., Chahal, Nita

المساهمون: Hospital for Sick Children, University of Toronto

المصدر: CJC Pediatric and Congenital Heart Disease ; volume 2, issue 5, page 211-218 ; ISSN 2772-8129

الإتاحة: https://doi.org/10.1016/j.cjcpc.2023.05.006Test
https://api.elsevier.com/content/article/PII:S2772812923000982?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2772812923000982?httpAccept=text/plainTest

المؤلفون: Lee, Whiwon, Hirjikaka, Daena, Grewal, Sonya, Shaw, Angela, Luca, Stephanie, Clausen, Marc, Bombard, Yvonne, Hayeems, Robin Z., Aronson, Melyssa, Bernier, Francois, Brudno, Michael, Carroll, June C., Chad, Lauren, Cohn, Ronald, Costain, Gregory, Dhalla, Irfan, Faghfoury, Hanna, Friedman, Jan, Hewson, Stacy, Jamieson, Trevor, Jobling, Rebekah, Kodida, Rita, Laberge, Anne-Marie, Lerner-Ellis, Jordan, Liston, Eriskay, Mamdani, Muhammad, Marshall, Christian R., Osmond, Matthew, Pham, Quynh, Reble, Emma, Rudzicz, Frank, Seto, Emily, Shastri-Estrada, Serena, Shuman, Cheryl, Silver, Josh, Smith, Maureen, Thorpe, Kevin, Ungar, Wendy J.

المساهمون: Canadian Institutes of Health Research, University of Toronto

المصدر: Genetics in Medicine ; volume 26, issue 6, page 101122 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101122Test
https://api.elsevier.com/content/article/PII:S1098360024000558?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000558?httpAccept=text/plainTest

المؤلفون: Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, Wagner, Matias

المصدر: Genetics in Medicine ; volume 26, issue 2, page 101013 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2023.101013Test
https://api.elsevier.com/content/article/PII:S1098360023010298?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360023010298?httpAccept=text/plainTest

المؤلفون: Allen, James P, Garber, Kathryn B, Perszyk, Riley, Khayat, Cara T, Kell, Steven A, Kaneko, Maki, Quindipan, Catherine, Saitta, Sulagna, Ladda, Roger L, Hewson, Stacy, Inbar-Feigenberg, Michal, Prasad, Chitra, Prasad, Asuri N, Olewiler, Leah, Mu, Weiyi, Rosenthal, Liana S, Scala, Marcello, Striano, Pasquale, Zara, Federico, McCullock, Tyler W

المصدر: Human Molecular Genetics; 2/15/2024, Vol. 33 Issue 4, p355-373, 19p

المؤلفون: Oh, Rachel Youjin, Deshwar, Ashish R., Marwaha, Ashish, Sabha, Nesrin, Tropak, Michael, Hou, Huayun, Yuki, Kyoko E., Wilson, Michael D., Rump, Patrick, Lunsing, Roelineke, Elserafy, Noha, Chung, Clara W.T., Hewson, Stacy, Klein-Rodewald, Tanja, Calzada-Wack, Julia, Moreno, Adrián Sanz, Kraiger, Markus, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Dowling, James, Schulze, Andreas

المصدر: Oh , R Y , Deshwar , A R , Marwaha , A , Sabha , N , Tropak , M , Hou , H , Yuki , K E , Wilson , M D , Rump , P , Lunsing , R , Elserafy , N , Chung , C W T , Hewson , S , Klein-Rodewald , T , Calzada-Wack , J , Moreno , A S , Kraiger , M , Marschall , S , Fuchs , H , Gailus-Durner , V , Hrabe de Angelis , M , Dowling , J & Schulze , ....

مصطلحات موضوعية: Autosomal recessive, GTPase-activating protein, Neurodevelopmental syndrome, Novel Mendelian disorder

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8Test

الإتاحة: https://doi.org/10.1016/j.gim.2022.07.024Test
https://hdl.handle.net/11370/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8Test
https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8Test
https://pure.rug.nl/ws/files/259853671/1_s2.0_S1098360022008772_main.pdfTest

المؤلفون: Hayeems, Robin Z., Luca, Stephanie, Ungar, Wendy J., Venkataramanan, Viji, Tsiplova, Kate, Bashir, Naazish S., Costain, Gregory, Inglese, Cara, McNiven, Vanda, Quercia, Nada, Shugar, Andrea, Yoon, Grace, Cytrynbaum, Cheryl, Dupuis, Lucie, Shao, Zhuo, Hewson, Stacy, Shuman, Cheryl, Aul, Ritu, Liston, Eriskay, Babul-Hirji, Riyana, Bushby, Alexandra, Pullenayegum, Eleanor, Chad, Lauren, Meyn, M. Stephen

المساهمون: Canadian Institutes of Health Research

المصدر: Genetics in Medicine ; volume 24, issue 2, page 430-438 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2021.10.005Test
https://api.elsevier.com/content/article/PII:S1098360021053557?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021053557?httpAccept=text/plainTest

المؤلفون: Alsowat, Daad, Whitney, Robyn, Hewson, Stacy, Jain, Puneet, Chan, Valerie, Kabir, Nadia, Amburgey, Kimberly, Noone, Damien, Lemaire, Mathieu, McCoy, Blathnaid, Zak, Maria

المصدر: Child Neurology Open ; volume 8, page 2329048X2110128 ; ISSN 2329-048X 2329-048X

مصطلحات موضوعية: General Medicine

الإتاحة: https://doi.org/10.1177/2329048x211012817Test

المؤلفون: Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., Dowling, James J.

المصدر: Neurology ; volume 96, issue 10 ; ISSN 0028-3878 1526-632X

الإتاحة: https://doi.org/10.1212/wnl.0000000000011458Test