Showing items 1 - 12 of 12

Your selections:

A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

  • 1
  • Disclaimer
  • Privacy
  • Copyright
  • Contact
  • Deposit