European Journal of Human Genetics View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1992

PUBLISHER

Springer International Publishing

LANGUAGE

en

HOMEPAGE

https://www.nature.com/ejhg/

Recent publications latest 20 shown

  • 2022-05-09 Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction
  • 2022-05-09 The genetics of hereditary cancer risk syndromes in Brazil: a comprehensive analysis of 1682 patients
  • 2022-05-02 Genetic analysis of the PCSK9 locus in psychological, psychiatric, metabolic and cardiovascular traits in UK Biobank
  • 2022-04-28 Returning individual research results in international direct-to-participant genomic research: results from a 31-country study
  • 2022-04-26 Association of microsatellite instability (MSI) status with the 5-year outcome and genetic ancestry in a large Brazilian cohort of colorectal cancer
  • 2022-04-26 Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes
  • 2022-04-22 Germline variant in Ctcf links mental retardation to Wilms tumor predisposition
  • 2022-04-18 Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
  • 2022-04-15 Correction: Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review
  • 2022-04-11 Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study
  • 2022-04-07 Bi-allelic variants in human TCTE1/DRC5 cause asthenospermia and male infertility
  • 2022-04-07 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing
  • 2022-04-06 The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
  • 2022-04-05 Predictive genetic testing for Motor neuron disease: time for a guideline?
  • 2022-04-01 ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis
  • 2022-04-01 Recommendations for reporting results of diagnostic genomic testing
  • 2022-04-01 DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
  • 2022-03-29 Coronavirus Host Genetics South Africa (COHG-SA) database—a variant database for gene regions associated with SARS-CoV-2 outcomes
  • 2022-03-29 Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia
  • 2022-03-28 Incorporating patient perspectives in the development of a core outcome set for reproductive genetic carrier screening: a sequential systematic review
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