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Journal of Human Genetics|June 20, 2019
High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestationsNaoki Nakagawa, Jun Sawada, Naka Sakamoto, et al.Journal of Human Genetics|April 19, 2019
Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasiaMingming Lv, Guoling You, Jinbing Wang, et al.Journal of Human Genetics|November 1, 2021
Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphismsRie Seyama, Naomi Tsuchida, Yasuyuki Okada, et al.Journal of Human Genetics|October 15, 2021
BCS1L mutations produce Fanconi syndrome with developmental disabilityKojima-Ishii Kanako, Nana Sakakibara, Kei Murayama, et al.Journal of Human Genetics|March 9, 2022
Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)Taylor J Maxwell, Paul W Franks, Steven E Kahn, et al.Journal of Human Genetics|March 24, 2022
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire surveyAkari Minamoto, Takahiro Yamada, Saki Shimada, et al.Journal of Human Genetics|October 7, 2018
CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal diseasePing Li, Yani He, Guangyan Cai, et al.Journal of Human Genetics|October 12, 2019
Gene association detection via local linear regression methodJinli He, Weijun Ma, Ying ZhouJournal of Human Genetics|October 11, 2005
Molecular genetic analysis for a novel Ael allele of the ABO blood group systemQiong Yu, Zhi-Hui Deng, Guo-Guang Wu, et al.Journal of Human Genetics|June 29, 2019
Effect of filaggrin loss-of-function mutations on atopic dermatitis in young age: a longitudinal birth cohort studyRyota Koseki, Wataru Morii, Emiko Noguchi, et al.Pageof 352