학술논문
'학술논문'
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1~10
Academic Journal
Donkervoort, Sandra; Mohassel, Payam; OLeary, Melanie; Bonner, Devon; Hartley, Taila; Acquaye, Nicole; Brull, Astrid; Saporta, Mario; Dyment, David; Sampson, Jacinda; Pajusalu, Sander; Austin-Tse, Christina; Hurth, Kyle; Cohen, Julie; McWalter, Kirsty; Warman-Chardon, Jodi; Crunk, Amy; Foley, A; Mammen, Andrew; Wheeler, Matthew; ODonnell-Luria, Anne; Bönnemann, Carsten; Mozaffar, Tahseen
Annals of Clinical and Translational Neurology. 11(3)
Academic Journal
Koo, Bon-hyeock; Lee, Yeon-Ju; Park, Na Rae; Heo, Su Chin; Hudson, David M.; Fernandes, Aysel A.; Friday, Chet S.; Hast, Michael W.; Corr, David T.; Keene, Douglas R.; Tufa, Sara F.; Dyment, Nathaniel A.; Joeng, Kyu Sang
Scientific Reports. 14(1)
van Karnebeek, Clara D. M.; Tarailo-Graovac, Maja; Leen, Rene; Meinsma, Rutger; Correard, Solenne; Jansen-Meijer, Judith; Prykhozhij, Sergey V.; Pena, Izabella A.; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia L.; Drogemoller, Britt I.; Grootemaat, Anita E.; van der Wel, Nicole N.; Dobritzsch, Doreen, 1972; Roseboom, Winfried; Schomakers, Bauke V.; Jaspers, Yorrick R. J.; Zoetekouw, Lida; Roelofsen, Jeroen; Ferreira, Carlos R.; van der Lee, Robin; Ross, Colin J.; Kochan, Jakub; McIntyre, Rebecca L.; van Klinken, Jan B.; van Weeghel, Michel; Kramer, Gertjan; Weschke, Bernhard; Labrune, Philippe; Willemsen, Michel A.; Riva, Daria; Garavaglia, Barbara; Moeschler, John B.; Filiano, James J.; Ekker, Marc; Berman, Jason N.; Dyment, David; Vaz, Frederic M.; Wassermann, Wyeth W.; Houtkooper, Riekelt H.; van Kuilenburg, Andre B. P.
Genetics in Medicine. 26(6)
Academic Journal
Sandra Donkervoort; Payam Mohassel; Melanie O'Leary; Devon E. Bonner; Taila Hartley; Nicole Acquaye; Astrid Brull; Tahseen Mozaffar; Mario A. Saporta; David A. Dyment; Jacinda B. Sampson; Sander Pajusalu; Christina Austin‐Tse; Kyle Hurth; Julie S. Cohen; Kirsty McWalter; Jodi Warman‐Chardon; Amy Crunk; A. Reghan Foley; Undiagnosed Diseases Network; Andrew L. Mammen; Matthew T. Wheeler; Anne O'Donnell‐Luria; Carsten G. Bönnemann
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío; Jacobs, Eva Z.; Vantomme, Lies; Leblanc, Pontus; Bogaert, Elke; Dheedene, Annelies; De Cock, Laurenz; Haghshenas, Sadegheh; Foroutan, Aidin; Levy, Michael A.; Kerkhof, Jennifer; McConkey, Haley; Chen, Chun-An; Batzir, Nurit Assia; Wang, Xia; Palomares, María; Carels, Marieke; Dermaut, Bart; Sadikovic, Bekim; Menten, Björn; Yuan, Bo; Vergult, Sarah; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Boycott, Kym; Brudno, Michael; Bernier, Francois; van Karnebeek, Clara; Dyment, David; Kernohan, Kristin; Innes, Micheil; Lamont, Ryan; Parboosingh, Jillian; Marshall, Deborah; Marshall, Christian; Mendoza, Roberto; Dowling, James; Hayeems, Robin; Knoppers, Bartha; Lehman, Anna; Mostafavi, Sara; Hartley, Taila; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Élisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.
In Genetics in Medicine February 2024 26(2)
Academic Journal
Heron, Delphine; Keren, Boris; Johnstone, Devon; Mears, Wendy; Morlot, Susanne; Nguyen, Thi; Rock, Rachel; Stolerman, Elliot; Russo, Julia; Burns, William; Jones, Julie; Serpieri, Valentina; Wallaschek, Hannah; Zanni, Ginevra; Dyment, David; Campeau, Philippe; Castle, Alison; Salian, Smrithi; Bassan, Haim; Sofrin-Drucker, Efrat; Cusmai, Raffaella; Herman, Kristin
Neurology: Genetics. 7(6)
Academic Journal
Ravenscroft, Thomas A; Phillips, Jennifer B; Fieg, Elizabeth; Bajikar, Sameer S; Peirce, Judy; Wegner, Jeremy; Luna, Alia A; Fox, Eric J; Yan, Yi-Lin; Rosenfeld, Jill A; Zirin, Jonathan; Kanca, Oguz; Benke, Paul J; Cameron, Eric S; Strehlow, Vincent; Platzer, Konrad; Jamra, Rami Abou; Klöckner, Chiara; Osmond, Matthew; Licata, Thomas; Rojas, Samantha; Dyment, David; Chong, Josephine SC; Lincoln, Sharyn; Stoler, Joan M; Postlethwait, John H; Wangler, Michael F; Yamamoto, Shinya; Krier, Joel; Westerfield, Monte; Bellen, Hugo J
Genetics in Medicine. 23(10)
Academic Journal
Venkateswaran, Sunita; Michaud, Jean; Ito, Yoko; Geraghty, Michael; Lewis, Evan C.; Ellezam, Benjamin; Boycott, Kym M.; Dyment, David A.; Kernohan, Kristin D.; Care4Rare Canada Consortium
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