Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.

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Mercan S., Akcakaya N. H., Salman B., Yapici Z., Ozbek U., Ugur Iseri S. A.

Genes & genomics, vol.45, no.1, pp.13-21, 2023 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 45 Issue: 1
  • Publication Date: 2023
  • Doi Number: 10.1007/s13258-022-01344-8
  • Journal Name: Genes & genomics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.13-21
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University Affiliated: Yes