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Human Mutation|November 30, 2011
The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1Angelica Nordin, Elin Larsson, Monica HolmbergHuman Mutation|November 11, 2014
Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsAlberto Acedo, Cristina Hernández-Moro, Álvaro Curiel-García, et al.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.Pageof 577