Medical Genetics

Dr. Öğr. Üyesi Ayça Kocaağa

Doctor and researcher Eskişehir Şehir Hastanesi Eskişehir
Intellectual DisabilityAbortion, HabitualAbnormalities, MultipleBehcet Syndrome
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Intellectual Disability 3 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Abortion, Habitual 2 publications
  • Abnormalities, Multiple 2 publications
  • Behcet Syndrome 2 publications

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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • InstitutionEskişehir Şehir Hastanesisaglik.gov.trFrom source
  • Area of workIntellectual DisabilityExtracted from 3 publications · Model version —From source
  • Publications45 publicationsORCID, Scopus, OpenAlexFrom source
  • ORCID0000-0003-0434-8445ORCIDFrom source
  • Last synchronised7 November 2026 00:21https://eskisehirsehir.saglik.gov.tr/TR-604577/doktorlarimiz.html#ayca-kocaagasaglik.gov.tr

Scientific work

Publications on Intellectual Disability

45 publications

  1. Diagnostic pitfalls in Gitelman syndrome: interpreting a single SLC12A3 variant

    Cukurova Medical Journal, 2026

    DOI 10.17826/cumj.1861505 Open-access full textSource: ORCID

  2. Clinical and molecular spectrum of TSC1 and TSC2 mutations in pediatric tuberous sclerosis complex: Report of five novel variants

    Neurology Asia, 2026

    DOI 10.54029/2026jwy Open-access full textSource: ORCID

  3. Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort

    Clinical and Translational Oncology, 2026

    DOI 10.1007/s12094-026-04258-z PMID 41697532 Source: ORCID

  4. Comprehensive Genetic Analysis of Non-Obstructive Male Infertility Using Combined Next-Generation Sequencing and Multiplex Ligation-Probe Amplification

    Bratislava Medical Journal, 2026

    DOI 10.1007/s44411-026-00505-5 Open-access full textSource: Scopus

  5. Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report

    The Turkish Journal of Pediatrics, 2025

    DOI 10.24953/turkjpediatr.2025.6246 PMID 41636192 Open-access full textSource: ORCID

  6. Chromosomal abnormalities of embryos from sporadic and recurrent miscarriages: a tertiary center experience

    Molecular Biology Reports, 2025

    DOI 10.1007/s11033-025-10557-5 PMID 40439801 1 citation (Scopus) Source: ORCID

  7. COMPARATIVE EVALUATION OF FXIII VAL34LEU AND PAI 4G/5G POLYMORPHISMS IN WOMEN WITH RECURRENT PREGNANCY LOSS AND SPONTANEOUS MISCARRIAGE

    Eskisehir Medical Journal, Eskisehir City Hospital, 2025

    DOI 10.48176/esmj.2025.198 Open-access full textSource: ORCID

  8. Investigation of the relationship between venous thromboembolism and thrombophilic variants

    Revista da Associação Médica Brasileira, 2025

    DOI 10.1590/1806-9282.20241171 PMID 40105557 Open-access full textSource: ORCID

  9. Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

    Frontiers in Neurology, 2025

    DOI 10.3389/fneur.2025.1623314 PMID 41245872 2 citations (Scopus) Open-access full textSource: Scopus

  10. A review of the immunogenetics of Stevens-Johnson syndrome and toxic epidermal necrolysis

    Global Medical Genetics, 2025

    DOI 10.1016/j.gmg.2025.100054 PMID 40469883 2 citations (OpenAlex) Open-access full textSource: OpenAlex

View all 45 publications