Showing results (1741-1750 of 3,522) with videos related to
Sort By:
Pageof 353
Journal of Human Genetics|September 28, 2026
Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasiaTing-Wei Kao, Jung-Yien Chien, Jo-Yu Chen, et al.Journal of Human Genetics|October 27, 2026
Neuromuscular junction pathology in amyotrophic lateral sclerosis and emerging molecular therapeutic strategiesKazuki Okoshi, Yoshitsugu AokiJournal 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 IshikawaJournal of Human Genetics|July 6, 2021
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairmentSamuel M Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, et al.Journal of Human Genetics|May 29, 2021
Secondary findings in 622 Turkish clinical exome sequencing dataEsra Arslan Ateş, Ayberk Türkyilmaz, Özlem Yıldırım, et al.Journal of Human Genetics|July 10, 2021
Novel PRMT7 mutation in a rare case of dysmorphism and intellectual disabilityJessie Poquérusse, Whitney Whitford, Juliet Taylor, et al.Pageof 353