Showing results 1 to 2 of 2
Title | Author(s) | Issue Date | |
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Mandibulofacial dysostosis with microcephaly caused by a novel "EFTUD2" mutation in a Chinese infant Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting | 2014 | ||
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features Proceeding/Conference:European Human Genetics Conference, 2019 | Gordon, CTLeung, KCMak, CCYDoherty, DLin, AVegas, NCho, MDimartino, CWeisfeld-Adams, JLessel, DJoss, SLi, CGonzaga-Jauregui, CZarate, YTroyer, CKant, SLeung, GBarone, AYang, SBend, ERoadhouse, CZahir, FStolerman, EBienvenu, TOrenstein, NDobyns, WShieh, JWaggoner, DGripp, KParker, MStoler, JLyonnet, SCormiere-Daire, VViskochil, DHoffman, TAmiel, JChung, BHY | 2019 |