Showing results (5631-5640 of 5,829) with videos related to

Sort By:
Pageof 583
Human Mutation|October 13, 2018
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossAndrea M Oza, Marina T DiStefano, Sarah E Hemphill, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Human Mutation|October 13, 2018
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase GeneDiane B Zastrow, Heather Baudet, Wei Shen, et al.
Human Mutation|May 7, 2019
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathyMarialetizia Motta, Antonella Giancotti, Gioia Mastromoro, et al.
Human Mutation|June 23, 2019
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the diseaseCarla Martins, Paula Frassinetti V de Medeiros, Sandra Leistner-Segal, et al.
Human Mutation|April 19, 2019
Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosaXiu-Feng Huang, Lue Xiang, Xiao-Long Fang, et al.
Human Mutation|March 10, 2022
Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseasesGijs W E Santen, Harry G Leitch, Jan Cobben
Human Mutation|July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisVandana Shashi, Janelle Geist, Youngha Lee, et al.
Human Mutation|October 10, 2018
In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesisAsma Tajouri, Maher Kharrat, Syrine Hizem, et al.
Human Mutation|September 15, 2018
Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trialKonstantin Weber-Lassalle, Philipp Harter, Jan Hauke, et al.
Pageof 583