Genetics in Medicine View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1998

PUBLISHER

Nature Publishing Group US

LANGUAGE

en

HOMEPAGE

https://www.nature.com/gim/

Recent publications latest 20 shown

  • 2021-10-28 News
  • 2021-10-19 Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
  • 2021-10-01 News
  • 2021-09-23 News
  • 2021-09-14 Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
  • 2021-09-14 Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot
  • 2021-08-27 Correction to: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
  • 2021-08-25 A qualitative investigation of biomedical informatics interoperability standards for genetic test reporting: benefits, challenges, and motivations from the testing laboratory’s perspective
  • 2021-08-18 Correction to: The genetic architecture of Plakophilin 2 cardiomyopathy
  • 2021-08-13 Correction to: Cystic fibrosis–related diabetes onset can be predicted using biomarkers measured at birth
  • 2021-08-04 News
  • 2021-08-03 Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
  • 2021-08-03 Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
  • 2021-08-03 Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
  • 2021-07-23 Correction to: Direct-to-consumer prenatal testing for multigenic or polygenic disorders: a position statement of the American College of Medical Genetics and Genomics (ACMG)
  • 2021-07-23 Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency
  • 2021-07-20 Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
  • 2021-07-14 Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia
  • 2021-07-13 Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
  • 2021-07-13 Increased risk for dementia in neurofibromatosis type 1
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