Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Turkyilmaz A., Sager S. G., Terali K., Kart P. O., Kamasak T., Ayaz A., ...More

Clinical genetics, vol.107, no.4, pp.373-389, 2025 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 107 Issue: 4
  • Publication Date: 2025
  • Doi Number: 10.1111/cge.14669
  • Journal Name: Clinical genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE
  • Page Numbers: pp.373-389
  • Keywords: copy number analysis, intellectual disability, ultrarare phenotypes, whole exome sequencing
  • Karadeniz Technical University Affiliated: Yes