Showing results (2271-2280 of 5,825) with videos related to
Sort By:
Pageof 583
Human Mutation|October 24, 2014
Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathyFabian Baertling, Mariel A M van den Brand, Jozef L Hertecant, et al.Human Mutation|October 22, 2014
Whole-exome sequencing identifies a variant in TMEM132E causing autosomal-recessive nonsyndromic hearing loss DFNB99Jiangxia Li, Xiaohan Zhao, Qian Xin, et al.Human Mutation|October 31, 2014
The mutational landscape in pediatric acute lymphoblastic leukemia deciphered by whole genome sequencingCarl Mårten Lindqvist, Jessica Nordlund, Diana Ekman, et al.Human Mutation|November 26, 2013
Characterization of SLC26A9 in patients with CF-like lung diseaseNaziha Bakouh, Thierry Bienvenu, Annick Thomas, et al.Human Mutation|November 18, 2014
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 familyFei Mao, Zhaohui Li, Baoyue Zhao, et al.Human Mutation|March 29, 2000
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathiesK White, A Marquardt, B H WeberHuman Mutation|March 29, 2000
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase geneE MornetHuman Mutation|March 29, 2000
AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiencyY Zhang, K M Dipple, E Vilain, et al.Human Mutation|March 29, 2000
Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patientsI V Mersiyanova, S M Ismailov, A V Polyakov, et al.Human Mutation|March 29, 2000
Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in CyprusS L Xenophontos, A Pierides, K Demetriou, et al.Pageof 583