학술논문
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
Document Type
Journal
Author
Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frederic; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher; Lehmann, Andrea; Cogne, Benjamin; Kuery, Sebastien; Besnard, Thomas; Isidor, Bertrand; Bezieau, Stephane; Hazart, Isabelle; Nagakura, Honey; Immken, LaDonna L.; Littlejohn, Rebecca O.; Roeder, Elizabeth; Caglayan, S. Hande; Kara, Bulent; Hardies, Katia; Weckhuysen, Sarah; May, Patrick; Lemke, Johannes R.; Elpeleg, Orly; Abu-Libdeh, Bassam; James, Kiely N.; Silhavy, Jennifer L.; Issa, Mahmoud Y.; Zaki, Maha S.; Gleeson, Joseph G.; Seavitt, John R.; Dickinson, Mary E.; Ljungberg, M. Cecilia; Wells, Sara; Johnson, Sara J.; Teboul, Lydia; Eng, Christine M.; Yang, Yaping; Kloetzel, Peter-Michael; Heaney, Jason D.; Walkiewicz, Magdalena A.; EuroEPINOMICS RES Consortium Autos
Source
Subject
Language
English
ISSN
15376605