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

Taşkıran Z. E., Karaosmanoglu B., Kosukcu C., Urel-Demir G., Akgun-Dogan O., Simsek-Kiper P. O., ...Daha Fazla

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, cilt.65, sa.6, ss.577-588, 2021 (SSCI, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 65 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1111/jir.12835
  • Dergi Adı: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
  • Derginin Tarandığı İndeksler: Social Sciences Citation Index (SSCI), Scopus, Academic Search Premier, ASSIA, PASCAL, BIOSIS, CINAHL, EBSCO Education Source, Educational research abstracts (ERA), EMBASE, ERIC (Education Resources Information Center), Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo, Public Affairs Index
  • Sayfa Sayıları: ss.577-588
  • Anahtar Kelimeler: consanguinity, diagnostic yield, non&#8208, syndromic intellectual disability, whole&#8208, exome sequencing
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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