Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability


TAŞKIRAN Z. E. , KARAOSMANOĞLU B., KOŞUKCU C., Urel-Demir G., Akgun-Dogan Ö. , Simsek-Kiper P. o. , ...More

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, vol.65, no.6, pp.577-588, 2021 (Journal Indexed in SSCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 65 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.1111/jir.12835
  • Title of Journal : JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
  • Page Numbers: pp.577-588

Abstract

Background Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians.