European Journal of Human Genetics View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1992

PUBLISHER

Springer International Publishing

LANGUAGE

en

HOMEPAGE

http://www.nature.com/ejhg/

Recent publications latest 20 shown

  • 2019-05 Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
  • 2019-05 De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
  • 2019-05 Feasibility of couple-based expanded carrier screening offered by general practitioners
  • 2019-05 Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
  • 2019-05 Expanded reproductive carrier screening—how can we do the most good and cause the least harm?
  • 2019-05 Reviewer recognition
  • 2019-05 Genetics of the patella
  • 2019-05 Motivations for data sharing—views of research participants from four European countries: A DIRECT study
  • 2019-05 Case–control analysis identifies shared properties of rare germline variation in cancer predisposing genes
  • 2019-05 A validated PROM in genetic counselling: the psychometric properties of the Dutch version of the Genetic Counselling Outcome Scale
  • 2019-05 Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data
  • 2019-05 Australians’ views and experience of personal genomic testing: survey findings from the Genioz study
  • 2019-05 Exome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries
  • 2019-05 ART-DeCo: easy tool for detection and characterization of cross-contamination of DNA samples in diagnostic next-generation sequencing analysis
  • 2019-05 Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors
  • 2019-05 Comparison of methods for multivariate gene-based association tests for complex diseases using common variants
  • 2019-05 Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
  • 2019-05 The Marquesans at the fringes of the Austronesian expansion
  • 2019-04-12 Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
  • 2019-04-12 Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.
  • JSON-LD is the canonical representation for SciGraph data.

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