Showing results (421-430 of 2,512) with videos related to

Sort By:
Pageof 252
Molecular Genetics & Genomic Medicine|August 20, 2020
Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndromeOle Magnus Bjorgaas Helle, Torkild Høieggen Pedersen, Lilian Bomme Ousager, et al.
Molecular Genetics & Genomic Medicine|July 21, 2020
BRCA2 c.8827C>T pathogenic mutation in a consanguineous Chinese family with hereditary breast cancerJiangfen Wang, Jiayue Qin, Chunfang Xi, et al.
Molecular Genetics & Genomic Medicine|July 3, 2020
Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsyJiwon Lee, Chung Lee, Chang-Seok Ki, et al.
Molecular Genetics & Genomic Medicine|July 28, 2020
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disabilitySepideh Mehvari, Farzaneh Larti, Hao Hu, et al.
Molecular Genetics & Genomic Medicine|July 28, 2020
Genetic testing and employer-sponsored wellness programs: An overview of current vendors, products, and practicesWhitney S McDonald, Jennifer K Wagner, Patricia A Deverka, et al.
Molecular Genetics & Genomic Medicine|June 18, 2014
CTSC and Papillon-Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database updateNikoletta Nagy, Péter Vályi, Zsanett Csoma, et al.
Molecular Genetics & Genomic Medicine|June 18, 2014
Human leukocyte antigen haplotype phasing by allele-specific enrichment with peptide nucleic acid probesNicholas M Murphy, Colin W Pouton, Helen R Irving
Molecular Genetics & Genomic Medicine|June 18, 2014
A rare sequence variant in intron 1 of THAP1 is associated with primary dystoniaSatya R Vemula, Jianfeng Xiao, Yu Zhao, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathyChristina DiVincenzo, Christopher D Elzinga, Adam C Medeiros, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trioDale L Bodian, Benjamin D Solomon, Alina Khromykh, et al.
Pageof 252