학술논문
'학술논문'
에서 검색결과 200건 | 목록
20~30
Academic Journal
Jefferson, Amanda; Leonard, Helen; Siafarikas, Aris; Woodhead, Helen; Fyfe, Sue; Ward, Leanne M.; Munns, Craig; Motil, Kathleen; Tarquinio, Daniel; Shapiro, Jay R.; Brismar, Torkel; Ben-Zeev, Bruria; Bisgaard, Anne-Marie; Coppola, Giangennaro; Ellaway, Carolyn; Freilinger, Michael; Geerts, Suzanne; Humphreys, Peter; Jones, Mary; Lane, Jane
Academic Journal
Downs, Jenny; Torode, Ian; Ellaway, Carolyn; Jacoby, Peter; Bunting, Catherine; Wong, Kingsley; Christodoulou, John; Leonard, Helen
Academic Journal
Academic Journal
Journal of Inherited Metabolic Disease Reports; Nov2020, Vol. 56 Issue 1, p3-8, 6p
Academic Journal
Kaur, Simranpreet; Van Bergen, Nicole J.; Verhey, Kristen J.; Nowell, Cameron J.; Budaitis, Breane; Yue, Yang; Ellaway, Carolyn; Brunetti‐Pierri, Nicola; Cappuccio, Gerarda; Bruno, Irene; Boyle, Lia; Nigro, Vincenzo; Torella, Annalaura; Roscioli, Tony; Cowley, Mark J.; Massey, Sean; Sonawane, Rhea; Burton, Matthew D.; Schonewolf‐Greulich, Bitten; Tümer, Zeynep
Human Mutation; Oct2020, Vol. 41 Issue 10, p1761-1774, 14p
Academic Journal
Johnson, Alexandra M; Mandelstam, Simone; Andrews, Ian; Boysen, Katja; Yaplito‐Lee, Joy; Fietz, Michael; Nagarajan, Lakshmi; Rodriguez‐Casero, Victoria; Ryan, Monique M; Smith, Nicholas; Scheffer, Ingrid E; Ellaway, Carolyn; Yaplito-Lee, Joy; Rodriguez-Casero, Victoria
Academic Journal
Academic Journal
Tchan, Michel; Henderson, Robert; Kornberg, Andrew; Kairaitis, Kristina; Fuller, Maria; Davis, Mark; Ellaway, Carolyn; Reardon, Katrina; Corbett, Alastair; Needham, Merrilee; McKelvie, Penny
Academic Journal
Moravej, Hossein; Altassan, Ruqaiah; Jaeken, Jaak; Enns, Gregory M.; Ellaway, Carolyn; Balasubramaniam, Shanti; De Lonlay, Pascale; Coman, David; Mercimek‐Andrews, Saadet; Witters, Peter; Morava, Eva
Journal of Inherited Metabolic Disease Reports; Jan2020, Vol. 51 Issue 1, p76-81, 6p
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient.
Academic Journal
Kaur, Simranpreet; Van Bergen, Nicole J.; Gold, Wendy Anne; Eggers, Stefanie; Lunke, Sebastian; White, Susan M.; Ellaway, Carolyn; Christodoulou, John
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[AR] Ellaway, Carolyn
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