Showing results (2441-2450 of 3,511) with videos related to
Sort By:
Pageof 352
Journal of Human Genetics|September 18, 2020
The short-term mortality and morbidity of very low birth weight infants with trisomy 18 or trisomy 13 in JapanHidenori Kawasaki, Takahiro Yamada, Yoshimitsu Takahashi, et al.Journal of Human Genetics|September 20, 2020
Single-cell genomics to understand disease pathogenesisSeitaro NomuraJournal of Human Genetics|September 24, 2020
Association of ABCG1 gene methylation and its dynamic change status with incident type 2 diabetes mellitus: the Rural Chinese Cohort StudyRanran Qie, Qing Chen, Tieqiang Wang, et al.Journal of Human Genetics|October 31, 2020
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature reviewYuka Shibata, Masaaki Matsushima, Takashi Matsukawa, et al.Journal of Human Genetics|November 1, 2020
A novel missense variant in CUL3 shows altered binding ability to BTB-adaptor proteins leading to diverse phenotypes of CUL3-related disordersKohji Kato, Fuyuki Miya, Yasuyoshi Oka, et al.Journal of Human Genetics|December 2, 2020
Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsyMami Shibata, Atsushi Ishii, Ayako Goto, et al.Journal of Human Genetics|March 17, 2021
Genetic association of MMP14 promoter variants and their functional significance in gallbladder cancer pathogenesisVinay J, Debakanta Mishra, Dinesh Meher, et al.Journal of Human Genetics|January 29, 2021
Long-read whole-genome sequencing identified a partial MBD5 deletion in an exome-negative patient with neurodevelopmental disorderSachiko Ohori, Rie S Tsuburaya, Masako Kinoshita, et al.Journal of Human Genetics|March 13, 2021
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndromeMainak Bardhan, Kiran Polavarapu, Nandeesh N Bevinahalli, et al.Journal of Human Genetics|February 2, 2021
Y chromosome analysis for common surnames in the Japanese male populationEriko Ochiai, Motoki Osawa, Shiori Satoh, et al.Pageof 352