Genetics in Medicine View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1998

PUBLISHER

Nature Publishing Group US

LANGUAGE

en

HOMEPAGE

http://www.nature.com/gim/

Recent publications latest 20 shown

  • 2019-04-11 Response to Knoppers et al.
  • 2019-04-05 Successful recruitment and retention of diverse participants in a genomics clinical trial: a good invitation to a great party.
  • 2019-04-05 A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.
  • 2019-04-04 Correction: Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis
  • 2019-04-04 Correction: Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
  • 2019-04-03 Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)
  • 2019-04 News
  • 2019-04 Developing a genetic services assessment tool to inform quality improvement efforts in state genetic service delivery
  • 2019-04 Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
  • 2019-04 In This Issue
  • 2019-04 CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies
  • 2019-04 The physician–patient relationship in the age of precision medicine
  • 2019-04 Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples
  • 2019-04 Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease
  • 2019-04 ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure
  • 2019-04 Giving adolescents a voice: the types of genetic information adolescents choose to learn and why
  • 2019-04 De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy
  • 2019-04 Insights into genetics, human biology and disease gleaned from family based genomic studies
  • 2019-04 Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future
  • 2019-03-28 Mobility in osteogenesis imperfecta: a multicenter North American study
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