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Journal of Human Genetics|June 4, 2026
Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center studyShiho Uchida, Yuki Mizuguchi, Suguru Sato, et al.Journal of Human Genetics|May 19, 2026
Transfer RNA-derived small RNAs: from biogenesis to regulatory roles in male reproductive systemXiaodan Jiang, Xinliang Gu, Yang Li, et al.Journal of Human Genetics|August 3, 1999
Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineageT Shinka, K Tomita, T Toda, et al.Journal of Human Genetics|August 9, 2026
Molecular genetics of skeletal muscle diseases associated with abnormal excitation-contraction couplingYukari EndoJournal of Human Genetics|August 12, 2026
Comprehensive characterization and translational implications of the GalnsR384C mouse model of Mucopolysaccharidosis IVADione A Holder, Betul Celik, Sampurna Saikia, et al.Journal of Human Genetics|April 2, 2020
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)Marzieh Mohseni, Mojdeh Akbari, Kevin T Booth, et al.Journal of Human Genetics|September 13, 2020
Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese populationHiroya Naruse, Hiroyuki Ishiura, Jun Mitsui, et al.Journal of Human Genetics|September 13, 2020
"Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes"J A Aguilar-Velázquez, H Rangel-VillalobosJournal of Human Genetics|September 13, 2020
Aberrant expression of PAX6 gene associated with classical aniridia: identification and functional characterization of novel noncoding mutationsJunwon Lee, Yoonjong Suh, Han Jeong, et al.Journal of Human Genetics|July 16, 2021
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populationsHiroto Katoh, Shumpei IshikawaPageof 351