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Bone|August 17, 2021
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defectsEleonora Palagano, Christopher T Gordon, Paolo Uva, et al.Journal of Visualized Experiments : Jove|April 7, 2022
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical DevelopmentLucile Boutaud, Marie Michael, Céline Banal, et al.Human Molecular Genetics|December 4, 2020
Heterozygous loss of WBP11 function causes multiple congenital defects in humans and miceElla M M A Martin, Annabelle Enriquez, Duncan B Sparrow, et al.American Journal of Human Genetics|January 15, 2019
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental DisorderRaphael Carapito, Ekaterina L Ivanova, Aurore Morlon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2021
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new familiesAnne Guimier, Melanie T Achleitner, Anne Moreau de Bellaing, et al.Brain : a Journal of Neurology|December 14, 2019
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsisChristopher C Y Mak, Dan Doherty, Angela E Lin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 8, 2020
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7Laura Castilla-Vallmanya, Kaja K Selmer, Clémantine Dimartino, et al.Pageof 1