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

http://www.nature.com/hgv/

Recent publications latest 20 shown

  • 2019-12 Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1
  • 2019-12 A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome
  • 2019-12 A novel PHEX mutation associated with vitamin D-resistant rickets
  • 2019-12 A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
  • 2019-12 The CFTR gene variants in Japanese children with idiopathic pancreatitis
  • 2019-12 Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
  • 2019-12 A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?
  • 2019-12 Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure
  • 2019-12 A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
  • 2019-12 A novel intragenic deletion in OPHN1 in a Japanese patient with Dandy-Walker malformation
  • 2019-12 Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
  • 2019-12 Genetics of narcolepsy
  • 2019-12 A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
  • 2019-12 A pediatric case of hypomagnesemia 1 (HOMG1) caused by novel compound heterozygous mutations in TRPM6
  • 2019-12 A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants
  • 2019-12 (Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty
  • 2019-12 A novel variant in FN1 in a family with fibronectin glomerulopathy
  • 2019-12 A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene
  • 2018-12 eLD: entropy-based linkage disequilibrium index between multiallelic sites
  • 2018-12 Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome
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