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Journal of Human Genetics|June 1, 2019
Relating Clans Ao and Aisin Gioro from northeast China by whole Y-chromosome sequencingChi-Zao Wang, Lan-Hai Wei, Ling-Xiang Wang, et al.Journal of Human Genetics|June 6, 2019
Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystoniaHormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, et al.Journal of Human Genetics|June 11, 2019
Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversusWeizhi Zhang, Dongping Li, Shijie Wei, et al.Journal of Human Genetics|October 12, 2019
Recent advances in the detection of base modifications using the Nanopore sequencerLiu Xu, Masahide SekiJournal of Human Genetics|October 18, 2019
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancersBoris Janssen, Sarah Bellis, Thomas Koller, et al.Journal of Human Genetics|May 16, 2019
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patientKiyoshi Yamaguchi, Eigo Shimizu, Rui Yamaguchi, et al.Journal of Human Genetics|March 19, 2022
Clinical genetics of Charcot-Marie-Tooth diseaseYujiro Higuchi, Hiroshi TakashimaJournal of Human Genetics|January 28, 2022
Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile ductMiyako Kanno, Mitsuyoshi Suzuki, Ken Tanikawa, et al.Journal of Human Genetics|July 6, 2019
A genetic-phenotypic classification for syndromic micrognathiaQiming Chen, Yan Zhao, Yifeng Qian, et al.Journal of Human Genetics|July 6, 2019
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in JapanIku Taguchi, Takahiro Yamada, Rina Akaishi, et al.Pageof 351