Showing results (5031-5040 of 5,829) with videos related to

Sort By:
Pageof 583
Human Mutation|January 1, 1997
Two mutated HEXA alleles in a Druze patient with late-infantile Tay-Sachs diseaseL Drucker, J A Hemli, R Navon
Human Mutation|January 1, 1997
Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and ItalyF Mailly, J Palmen, D P Muller, et al.
Human Mutation|January 1, 1997
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)S Bunge, H Ince, C Steglich, et al.
Human Mutation|August 6, 2016
Molecular Chaperones in the Pathogenesis of Amyotrophic Lateral Sclerosis: The Role of HSPB1Simona Capponi, Thomas Geuens, Alessandro Geroldi, et al.
Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.
Human Mutation|May 6, 2020
An update on genetic variants of the NKX2-5Jorge E Kolomenski, Marisol Delea, Leandro Simonetti, et al.
Human Mutation|May 6, 2020
5' splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicityJin-Huan Lin, Emmanuelle Masson, Arnaud Boulling, et al.
Human Mutation|July 1, 2015
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft PalateLuciano Abreu Brito, Guilherme Lopes Yamamoto, Soraia Melo, et al.
Human Mutation|April 29, 1998
Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplexL D Corden, J E Mellerio, M J Gratian, et al.
Human Mutation|April 29, 1998
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null allelesC J Gallione, D J Klaus, E Y Yeh, et al.
Pageof 583