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Genetic variants in the calpain-10 gene and the development of type 2 diabetes in the Japanese population JOURNAL ARTICLE published February 2005 in Journal of Human Genetics |
A new acro-osteolysis syndrome caused by duplications including PTHLH JOURNAL ARTICLE published September 2014 in Journal of Human Genetics |
Analyses of 5′ regulatory region polymorphisms in human SLC22A6 (OAT1) and SLC22A8 (OAT3) JOURNAL ARTICLE published June 2006 in Journal of Human Genetics |
Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene JOURNAL ARTICLE published July 2012 in Journal of Human Genetics |
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome JOURNAL ARTICLE published April 2018 in Journal of Human Genetics |
Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes JOURNAL ARTICLE published August 2010 in Journal of Human Genetics |
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus JOURNAL ARTICLE published March 2019 in Journal of Human Genetics |
CCND2 polymorphisms associated with clearance of HBV Infection JOURNAL ARTICLE published July 2010 in Journal of Human Genetics |
Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease JOURNAL ARTICLE published December 2004 in Journal of Human Genetics |
Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomes JOURNAL ARTICLE published December 2020 in Journal of Human Genetics Research funded by National Natural Science Foundation of China (91731303,41925009,41630102) | Chinese Academy of Sciences (XDB26000000) |
Genetic variants of FOXA2: risk of type 2 diabetes and effect on metabolic traits in North Indians JOURNAL ARTICLE published December 2008 in Journal of Human Genetics |
Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence JOURNAL ARTICLE published January 2004 in Journal of Human Genetics |
Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder JOURNAL ARTICLE published May 2017 in Journal of Human Genetics |
Introduction of a CD40L genomic fragment via a human artificial chromosome vector permits cell-type-specific gene expression and induces immunoglobulin secretion JOURNAL ARTICLE published May 2008 in Journal of Human Genetics |
TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion JOURNAL ARTICLE published September 2012 in Journal of Human Genetics |
Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico JOURNAL ARTICLE published June 2017 in Journal of Human Genetics |
A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes JOURNAL ARTICLE published July 2006 in Journal of Human Genetics |
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease JOURNAL ARTICLE published September 2013 in Journal of Human Genetics |
A common Ile796Val polymorphism of the human SREBP cleavage-activating protein (SCAP) gene JOURNAL ARTICLE published October 1999 in Journal of Human Genetics |
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent JOURNAL ARTICLE published March 2016 in Journal of Human Genetics |