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Journal of Human Genetics|June 30, 2017
A common deletion in the haptoglobin gene associated with blood cholesterol levels among Chinese womenNeil S Zheng, Lisa A Bastarache, Julie A Bastarache, et al.
Journal of Human Genetics|April 18, 2023
A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N Olson, et al.
Journal of Human Genetics|August 12, 2020
Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effectsRiku Takei, Murray Cadzow, David Markie, et al.
Journal of Human Genetics|September 14, 2012
Extended screening for major mitochondrial DNA point mutations in patients with hereditary hearing lossTomofumi Kato, Yutaka Nishigaki, Yoshihiro Noguchi, et al.
Journal of Human Genetics|August 24, 2012
Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependenceHuiping Zhang, Aryeh I Herman, Henry R Kranzler, et al.
Journal of Human Genetics|September 7, 2012
A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in JapaneseSeham Elgazzar, Hitoshi Zembutsu, Atsushi Takahashi, et al.
Journal of Human Genetics|July 19, 2020
An NGS-based genotyping in LQTS; minor genes are no longer minorSeiko Ohno, Junichi Ozawa, Megumi Fukuyama, et al.
Journal of Human Genetics|July 24, 2020
SARS-CoV-2 genomic variations associated with mortality rate of COVID-19Yujiro Toyoshima, Kensaku Nemoto, Saki Matsumoto, et al.
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