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Journal of Human Genetics|February 6, 2015
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutationMisako Kunii, Hiroshi Doi, Yuichi Higashiyama, et al.Journal of Human Genetics|January 23, 2015
Identification of FAM13A gene associated with the ratio of FEV1 to FVC in Korean population by genome-wide association studies including gene-environment interactionsSoriul Kim, Hyun Kim, Namhan Cho, et al.Journal of Human Genetics|January 29, 2022
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese familiesMasahiro Ando, Yujiro Higuchi, Yuji Okamoto, et al.Journal of Human Genetics|September 14, 2018
Genome-wide DNA methylation analysis of human peripheral blood reveals susceptibility loci of diabetes-related hearing lossJin Hao, Lin Hua, Xinxing Fu, et al.Journal of Human Genetics|April 19, 2018
Molecular epidemiology of lung cancer in Iran: implications for drug development and cancer preventionZahra Fathi, Nicholas L Syn, Jian-Guo Zhou, et al.Journal of Human Genetics|April 27, 2018
A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndromeMalavika Hebbar, Anil Kanthi, Anju Shukla, et al.Journal of Human Genetics|December 19, 2009
Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian communityHelene C Johanson, Wei Chen, Carol Wicking, et al.Journal of Human Genetics|October 12, 2005
Association analysis of interleukin 5 receptor alpha subunit (IL5RA) polymorphisms and asthmaHyun Sub Cheong, Lyoung Hyo Kim, Byung Lae Park, et al.Journal of Human Genetics|December 6, 2005
Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomesMichael F Hammer, Tatiana M Karafet, Hwayong Park, et al.Journal of Human Genetics|May 16, 2018
De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic featuresEkaterina R Lozier, Fedor A Konovalov, Ilya V Kanivets, et al.Pageof 351