Medical Genetics

Uzm. Dr. Elif Uzay

Doctor and researcher Zeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesi İstanbul
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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • InstitutionZeynep Kamil Kadın ve Çocuk Hastalıkları Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Publications4 publicationsEurope PMC, OpenAlex, ORCIDFrom source
  • ORCID0000-0001-8931-7685ORCIDFrom source
  • Last synchronised5 November 2026 08:57https://zeynepkamilkdch.saglik.gov.tr/TR-1458217/doktorlarimiz.html#elif-uzaysaglik.gov.tr

Scientific work

Publications

4 publications

  1. The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation

    BMC pediatrics, 2026

    DOI 10.1186/s12887-026-07905-0 PMID 42920114 Open-access full textSource: Europe PMC

  2. Additional file 2 of The clinical spectrum of MECP2 variants in males: a multicenter Turkish cohort of 22 probands, with implications for diagnosis and variant interpretation

    Figshare, 2026

    DOI 10.6084/m9.figshare.34762223 Open-access full textSource: OpenAlex

  3. Investigation of genotype–phenotype correlation in patients with AZF microdeletion in a single‐reference centre

    Andrologia, 2021

    DOI 10.1111/and.14188 PMID 34247421 7 citations (Europe PMC) Open-access full textSource: ORCID

  4. A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.

    American journal of medical genetics. Part A, 2020

    DOI 10.1002/ajmg.a.61489 PMID 31957987 9 citations (Europe PMC) Source: ORCID