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Journal of Human Genetics|July 22, 2016
FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathiesXiaona Fu, Haipo Yang, Cuijie Wei, et al.Journal of Human Genetics|July 22, 2016
Genetic-risk assessment of GWAS-derived susceptibility loci for type 2 diabetes in a 10 year follow-up of a population-based cohort studyMin Jin Go, Young Lee, Suyeon Park, et al.Journal of Human Genetics|July 17, 2015
Unique characteristics of the Ainu population in Northern JapanTimothy A Jinam, Hideaki Kanzawa-Kiriyama, Ituro Inoue, et al.Journal of Human Genetics|June 26, 2015
Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individualsYosuke Kawai, Takahiro Mimori, Kaname Kojima, et al.Journal of Human Genetics|June 26, 2015
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutationsMohammad Arif Hossain, Katsumi Higaki, Seiji Saito, et al.Journal of Human Genetics|July 3, 2015
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairmentJavier Ruiz-Martinez, Catharine E Krebs, Vladimir Makarov, et al.Journal of Human Genetics|May 29, 2015
Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenitaShinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, et al.Journal of Human Genetics|June 5, 2015
Functional and genetic diversity of leukocyte immunoglobulin-like receptor and implication for disease associationsKouyuki Hirayasu, Hisashi AraseJournal of Human Genetics|April 12, 2020
Genotype-phenotype correlations and effect of mutation location in Japanese CADASIL patientsMao Mukai, Ikuko Mizuta, Akiko Watanabe-Hosomi, et al.Pageof 352