학술논문
'학술논문'
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1~10
Academic Journal
D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; Curtis, Meredith; Higginbotham, Edward J; Holland, Jonathon; Khan, Tayyaba; Koh, Julia; Liang, Nicole S Y; McRae, Lyndsey; Nesbitt, Sarah E; Oby, Brandon T; Paternoster, Ben; Patton, Alistair; Rose, Graham; Scotchman, Elizabeth; Valentine, Rozalia; Wiltrout, Kimberly N; Hayeems, Robin Z; Jain, Puneet; Lunke, Sebastian; Marshall, Christian R; Rockowitz, Shira; Sebire, Neil J; Stark, Zornitza; White, Susan M; Chitty, Lyn S; Cross, J Helen; Scheffer, Ingrid E; Chau, Vann ; Costain, Gregory ; Poduri, Annapurna ; Howell, Katherine B ; McTague, Amy
In The Lancet Neurology September 2023 22(9):812-825
Academic Journal
Deuis, Jennifer R; Kumble, Smitha; Keramidas, Angelo; Ragnarsson, Lotten; Simons, Cas; Pais, Lynn; White, Susan M; Vetter, Irina
Human Molecular Genetics; 1/15/2024, Vol. 33 Issue 2, p103-109, 7p
Academic Journal
Choufani, Sanaa; Gibson, William T; Turinsky, Andrei L; Chung, Brian HY; Wang, Tianren; Garg, Kopal; Vitriolo, Alessandro; Cohen, Ana SA; Cyrus, Sharri; Goodman, Sarah; Chater-Diehl, Eric; Brzezinski, Jack; Brudno, Michael; Ming, Luk Ho; White, Susan M; Lynch, Sally Ann; Clericuzio, Carol; Temple, I Karen; Flinter, Frances; McConnell, Vivienne; Cushing, Tom; Bird, Lynne M; Splitt, Miranda; Kerr, Bronwyn; Scherer, Stephen W; Machado, Jerry; Imagawa, Eri; Okamoto, Nobuhiko; Matsumoto, Naomichi; Testa, Guiseppe; Iascone, Maria; Tenconi, Romano; Caluseriu, Oana; Mendoza-Londono, Roberto; Chitayat, David; Cytrynbaum, Cheryl; Tatton-Brown, Katrina; Weksberg, Rosanna
American Journal of Human Genetics. 106(5)
Academic Journal
Shah, Margit; Selvanathan, Arthavan; Baynam, Gareth; Berman, Yemima; Boughtwood, Tiffany; Freckmann, Mary‐Louise; Parasivam, Gayathri; White, Susan M; Grainger, Natalie; Kirk, Edwin P; Ma, Alan SL; Sachdev, Rani
Academic Journal
Akesson, Lauren S; Francis, David; de Silva, Michelle; Cole, Theresa; Simm, Peter; Oliver, Mark; White, Susan M
Academic Journal
Bergen, Nicole J Van; Bell, Katrina M; Carey, Kirsty; Gear, Russell; Massey, Sean; Murrell, Edward K; Gallacher, Lyndon; Pope, Kate; Lockhart, Paul J; Kornberg, Andrew; Pais, Lynn; Walkiewicz, Marzena; Simons, Cas; Flagship, MCRI Rare Diseases; Wickramasinghe, Vihandha O; White, Susan M; Christodoulou, John
Human Molecular Genetics; Feb2022, Vol. 31 Issue 3, p362-375, 14p
Academic Journal
Kortüm, Fanny; Kutsche, Kerstin; Korenke, Georg Christoph; Leuzzi, Vincenzo; Mowat, David; Nair, Lal D V; Nguyen, Thi Tuyet Mai; Thierry, Patrick; White, Susan M; Campeau, Philippe M; Tartaglia, Marco; Caputo, Viviana; Pizzuti, Antonio; Bauer, Christiane K; Stella, Lorenzo; Bocchinfuso, Gianfranco; Ciolfi, Andrea; Flex, Elisabetta; Alawi, Malik; Paolacci, Stefano
Academic Journal
Gao, Hantian; Muralidharan, Shreyas; Karim, Md Rezaul; White, Susan M; Cao, Lei R; Leedy, Kevin; Zhao, Hongping; Look, David C; Brillson, Leonard J
Periodical
Cloney, Thomas; Gallacher, Lyndon; Pais, Lynn S; Tan, Natalie B; Yeung, Alison; Stark, Zornitza; Brown, Natasha J; McGillivray, George; Delatycki, Martin B; de Silva, Michelle G; Downie, Lilian; Stutterd, Chloe A; Elliott, Justine; Compton, Alison G; Lovgren, Alysia; Oertel, Ralph; Francis, David; Bell, Katrina M; Sadedin, Simon; Lim, Sze Chern; Helman, Guy; Simons, Cas; Macarthur, Daniel G; Thorburn, David R; O'Donnell-Luria, Anne H; Christodoulou, John; White, Susan M; Tan, Tiong Yang
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 8 p748-758, 11p
Periodical
Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie; Stapleton, Rachel; Saida, Ken; Matsumoto, Naomichi; Miyake, Noriko; Sheffer, Ruth; Mor-Shaked, Hagar; Barnett, Christopher P; Byrne, Alicia B; Scott, Hamish S; Kraus, Alison; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Iorio, Raffaele; Di Dato, Fabiola; Pais, Lynn S; Yeung, Alison; Tan, Tiong Y; Taylor, Jenny C; Christodoulou, John; White, Susan M
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 5 p511-516, 6p
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[AR] White, Susan M
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