Journal of Human Genetics View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1998

PUBLISHER

Springer Singapore

LANGUAGE

ja

HOMEPAGE

https://www.nature.com/jhg

Recent publications latest 20 shown

  • 2022-04-15 Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing
  • 2022-04-12 Correction to: Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)
  • 2022-03-30 Genome-wide association study of primary dysmenorrhea in the Taiwan Biobank validates associations near the NGF and IL1 gene loci
  • 2022-03-28 Y-SNP Haplogroup Hierarchy Finder: a web tool for Y-SNP haplogroup assignment
  • 2022-03-25 Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome
  • 2022-03-23 Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
  • 2022-03-23 Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey
  • 2022-03-22 ACAN biallelic variants in a girl with severe idiopathic short stature
  • 2022-03-22 Assessment of NKG2C copy number variation in HIV-1 infection susceptibility, and considerations about the potential role of lacking receptors and virus infection
  • 2022-03-18 Clinical genetics of Charcot–Marie–Tooth disease
  • 2022-03-09 Quantitative trait loci, G×E and G×G for glycemic traits: response to metformin and placebo in the Diabetes Prevention Program (DPP)
  • 2022-03-07 Genome-wide association study identifies APOE locus influencing plasma p-tau181 levels
  • 2022-02-22 Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides
  • 2022-02-15 A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy
  • 2022-02-09 Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
  • 2022-02-07 A clinical and genetic study of SPG31 in Japan
  • 2022-02-02 Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides
  • 2022-01-31 Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)
  • 2022-01-28 An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
  • 2022-01-28 Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct
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