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Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction JOURNAL ARTICLE published November 2014 in Journal of Human Genetics |
Erratum: New native South American Y chromosome lineages JOURNAL ARTICLE published July 2016 in Journal of Human Genetics |
A survey of the population genetic variation in the human kinome JOURNAL ARTICLE published August 2009 in Journal of Human Genetics |
A commentary on Implication of gene copy number variation in health and diseases JOURNAL ARTICLE published February 2012 in Journal of Human Genetics |
Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22–21.3 JOURNAL ARTICLE published March 2009 in Journal of Human Genetics |
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome JOURNAL ARTICLE published May 2019 in Journal of Human Genetics Research funded by Japan Agency for Medical Research and Development (18gk0110012h0101) |
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 |
IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations JOURNAL ARTICLE published July 2020 in Journal of Human Genetics |
Correction: Importance of gastric cancer for the diagnosis and surveillance of Japanese Lynch syndrome patients JOURNAL ARTICLE published July 2020 in Journal of Human Genetics |
Y chromosome analysis for common surnames in the Japanese male population JOURNAL ARTICLE published July 2021 in Journal of Human Genetics |
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review JOURNAL ARTICLE published May 2021 in Journal of Human Genetics |
Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A JOURNAL ARTICLE published November 2018 in Journal of Human Genetics |
Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan JOURNAL ARTICLE published October 2018 in Journal of Human Genetics |
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia JOURNAL ARTICLE published January 2019 in Journal of Human Genetics Research funded by Foundation for the National Institutes of Health (1R21NS094047-01) |
Identification of novel genetic variants for type 2 diabetes, childhood obesity, and their pleiotropic loci JOURNAL ARTICLE published May 2019 in Journal of Human Genetics Research funded by U.S. Department of Health & Human Services | National Institutes of Health (R01AR050496,R01AR057049,R01AR059781) |
Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome JOURNAL ARTICLE published May 2019 in Journal of Human Genetics |
Gene association detection via local linear regression method JOURNAL ARTICLE published February 2020 in Journal of Human Genetics |
Correction to: Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease JOURNAL ARTICLE published October 2019 in Journal of Human Genetics |
Expression QTL analysis of glaucoma endophenotypes in the Norfolk Island isolate provides evidence that immune-related genes are associated with optic disc size JOURNAL ARTICLE published January 2018 in Journal of Human Genetics |
Exome sequencing revealed a novel nonsense variant in ALX3 gene underlying frontorhiny JOURNAL ARTICLE published January 2018 in Journal of Human Genetics |