A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort

Antzeko izenburuak

• Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS)
  nork: Tri Retno Indah Susanti, et al.
  Argitaratua: (2019-05-01)
• Generation of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas-based technology
  nork: Alessandro Umbach, et al.
  Argitaratua: (2022-09-01)
• Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
  nork: Natalia Krawczynska, et al.
  Argitaratua: (2018-07-01)
• Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients
  nork: Natalia Krawczynska, et al.
  Argitaratua: (2019-01-01)
• Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance
  nork: Donna Reid, et al.
  Argitaratua: (2017-08-01)