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American Journal of Human Genetics|April 25, 2020
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative DiseasesJ Nicholas Cochran, Ethan G Geier, Luke W Bonham, et al.Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.Biorxiv : the Preprint Server for Biology|October 24, 2023
Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLsBelle A Moyers, Jacob M Loupe, Stephanie A Felker, et al.Genome Research|August 16, 2024
Allele-specific transcription factor binding across human brain regions offers mechanistic insight into eQTLsAshlyn G Anderson, Belle A Moyers, Jacob M Loupe, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 18, 2018
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 29, 2020
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfallsKevin M Bowling, Michelle L Thompson, David E Gray, et al.Journal of Medical Genetics|December 20, 2011
Further clinical and molecular delineation of the 15q24 microdeletion syndromeHeather C Mefford, Jill A Rosenfeld, Natasha Shur, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Recurrent duplications of 17q12 associated with variable phenotypesElyse Mitchell, Andrew Douglas, Susanne Kjaegaard, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variantsJennifer N Dines, Katie Golden-Grant, Amy LaCroix, et al.Pageof 38