Human Genome Variation View Homepage


Ontology type: schema:Periodical      Open Access: True


Journal Info

START YEAR

2014

PUBLISHER

Nature Publishing Group UK

LANGUAGE

en

HOMEPAGE

https://www.nature.com/hgv/

Recent publications latest 20 shown

  • 2022-11-16 Atypical Sotos syndrome caused by a novel splice site variant
  • 2022-11-04 National Center Biobank Network
  • 2022-10-26 An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome
  • 2022-10-17 Cloud service checklist for academic communities and customization for genome medical research
  • 2022-09-29 A Japanese patient with neonatal biotin-responsive basal ganglia disease
  • 2022-09-28 Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals
  • 2022-09-14 The ATRX splicing variant c.21-1G>A is asymptomatic
  • 2022-09-12 Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome
  • 2022-09-08 A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts
  • 2022-08-31 A novel COL4A5 splicing variant causing X-linked Alport syndrome: A case report
  • 2022-08-22 A Japanese family with dystonia due to a pathogenic variant in SGCE
  • 2022-08-08 Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
  • 2022-07-27 A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
  • 2022-07-25 A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome
  • 2022-07-22 Succinate dehydrogenase B-deficient renal cell carcinoma with a germline variant in a Japanese patient: a case report
  • 2022-06-10 A COL4A1 variant in a neonate with multiple intracranial hemorrhages and congenital cataracts
  • 2022-06-09 Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3
  • 2022-06-06 Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome
  • 2022-06-06 Correction: A rare homozygous missense mutation of COL7A1 in a Vietnamese family
  • 2022-06-06 Online tools for efficient paper writing
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