Showing results (51-60 of 95) with videos related to

Sort By:
Pageof 10
Brain : a Journal of Neurology|May 30, 2023
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya diseaseAmélie Pinard, Wenlei Ye, Stuart M Fraser, et al.
Biorxiv : the Preprint Server for Biology|November 19, 2025
A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap MixturesNahyun Kong, Zitian Tang, Andrew Ruttenberg, et al.
JAMA Cardiology|October 21, 2020
Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart DiseaseSarah U Morton, Akiko Shimamura, Peter E Newburger, et al.
Nature Genetics|February 7, 2018
CLCN2 chloride channel mutations in familial hyperaldosteronism type IIUte I Scholl, Gabriel Stölting, Julia Schewe, et al.
Biorxiv : the Preprint Server for Biology|January 9, 2026
Leveraging Human Pangenome for Improved Somatic Variant DetectionQichen Fu, Zilan Xin, Benpeng Miao, et al.
Trends in Molecular Medicine|October 6, 2023
Human genetics and molecular genomics of Chiari malformation type 1Kedous Y Mekbib, William Muñoz, Garrett Allington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2021
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsyDaniel G Calame, Somayeh Bakhtiari, Rachel Logan, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 12, 2023
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart diseaseKetu Mishra-Gorur, Tanyeri Barak, Leon D Kaulen, et al.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 1, 2021
Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb InvolvementMichael Zech, Kishore R Kumar, Sophie Reining, et al.
Pageof 10