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

  • 2019-04-12 PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
  • 2019-04-12 CRISPR in the North American popular press.
  • 2019-04-12 Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.
  • 2019-04-11 Variant classification changes over time in BRCA1 and BRCA2.
  • 2019-04-11 Letter: Relearning the 3 R's? Reinterpretation, recontact, and return of genetic variants.
  • 2019-04-11 Commentary: Expanded carrier screening: how much is too much?
  • 2019-04-11 Response to Knoppers et al.
  • 2019-04-10 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
  • 2019-04-05 A high-resolution X chromosome copy-number variation map in fertile females and women with primary ovarian insufficiency.
  • 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 All-cause mortality and survival in adults with 22q11.2 deletion syndrome.
  • 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)
  • 2019-04-03 Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations
  • 2019-04 Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
  • 2019-04 IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
  • 2019-04 Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations
  • 2019-04 Frequency and signature of somatic variants in 1461 human brain exomes
  • 2019-04 Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
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