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Browsing by Author Alfadhel, Majid
Showing results 1 to 2 of 2
Issue Date | Title | Author(s) | Type | М-cat. |
---|---|---|---|---|
2016 | Exome Sequencing and the Management of Neurometabolic Disorders | Tarailo Graovac, Maja ![]()
Abdelsayed, Mena; Alfadhel, Majid; Armstrong, Linlea; Baumgartner, Matthias R.; Burda, Patricie; Connolly, Mary B.; Cameron, Jessie; Demos, Michelle; Dewan, Tammie; Dionne, Janis; Evans, A. Mark; Friedman, Jan M.; Garber, Ian; Lewis, Suzanne; Ling, Jiqiang; Mandal, Rupasri; Mattman, Andre; McKinnon, Margaret; Michoulas, Aspasia; Metzger, Daniel; Ogunbayo, Oluseye A.; Rakic, Bojana; Rozmus, Jacob; Ruben, Peter; Sayson, Bryan; Santra, Saikat; Schultz, Kirk R.; Selby, Kathryn; Shekel, Paul; Sirrs, Sandra; Skrypnyk, Cristina; Superti-Furga, Andrea; Turvey, Stuart E.; Van, Allen Margot I.; Wishart, David; Wu, Jiang; Wu, John; Zafeiriou, Dimitrios; Kluijtmans, Leo; Wevers, Ron A.; Eydoux, Patrice; Lehman, Anna M.; Vallance, Hilary; Stockler-Ipsiroglu, Sylvia; Sinclair, Graham; Wasserman, Wyeth W.; van, Karnebeek Clara D.;
| Article | 21aM21a |
2016 | Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families | Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ![]()
Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;
| Article | 21M21 |