Showing results 1 to 3 of 3
Title | Author(s) | Issue Date | |
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A feasibility study for rapid Whole-Exome Sequencing for paediatric genetic disorders in Hong Kong Proceeding/Conference:European Human Genetics Conference, ESGH 2017 | 2017 | ||
B-PO02-218 NOVEL USE OF LIGNOCAINE AND CALCIUM IN REFRACTORY ATRIOVENTRICULAR BLOCK IN NEWBORN WITH CALMODULIN-RELATED LONG QT SYNDROME Proceeding/Conference:Heart Rhythm | 2021 | ||
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 |