Medical Genetics

Uzm. Dr. Pelin Özyavuz Çubuk

Doctor and researcher İstanbul Haseki Eğitim ve Araştırma Hastanesi İstanbul
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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • Institutionİstanbul Haseki Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Publications18 publicationsOpenAlex, Europe PMCFrom source
  • ORCID0000-0002-8951-7959ORCIDFrom source
  • Last synchronised5 November 2026 08:56https://hasekieah.saglik.gov.tr/TR-677745/doktorlar.html#pelin-ozyavuz-cubuksaglik.gov.tr

Scientific work

Publications

18 publications

  1. CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review

    Molecular Syndromology, 2026

    DOI 10.1159/000551451 PMID 42125344 Open-access full textSource: OpenAlex

  2. A Rare Homozygous Synonymous Variant in the ECM1 Gene in a Lipoid Proteinosis Patient

    Beyoglu Eye Journal, 2026

    DOI 10.14744/bej.2026.46343 PMID 42898511 Open-access full textSource: OpenAlex

  3. Ichthyosis and ARSA deficiency: An unusual clinical presentation

    Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi, 2025

    DOI 10.34087/cbusbed.1356022 Open-access full textSource: OpenAlex

  4. New Variants Identified by Next-Generation Sequencing in Polycystic Kidney Disease Patients

    Biochemical genetics, 2024

    DOI 10.1007/s10528-024-10880-9 PMID 38971859 2 citations (Europe PMC) Source: Europe PMC

  5. Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings

    Molecular biology reports, 2024

    DOI 10.1007/s11033-024-09545-y PMID 38664339 7 citations (Europe PMC) Source: Europe PMC

  6. New candidate region for mirror hand movements: two patients with terminal 9p deletion and 20p duplication

    Molecular Biology Reports, 2024

    DOI 10.1007/s11033-023-09192-9 PMID 38300327 Source: OpenAlex

  7. DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

    Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 2024

    DOI 10.24938/kutfd.1495687 Open-access full textSource: OpenAlex

  8. The Spectrum of Dystrophin Gene Deletions and Duplications in a cohort of Patients with Duchenne/Becker Muscular Dystrophy in Türkiye

    OSMANGAZİ JOURNAL OF MEDICINE, 2023

    DOI 10.20515/otd.1317452 1 citation (OpenAlex) Open-access full textSource: OpenAlex

  9. The Clinical and Molecular Cytogenetic Analyses of Six Patients with Pelizaeus-Merzbacher Disease From Four Families

    Turkish Journal of Pediatric Disease, 2023

    DOI 10.12956/tchd.1275274 Open-access full textSource: OpenAlex

  10. CHALLENGES FOR CHROMOSOME ANALYSIS IN PREGNANCY LOSS: LESSONS LEARNED FROM 1208 SAMPLE EXPERIENCE

    Kırıkkale Üniversitesi Tıp Fakültesi Dergisi, 2023

    DOI 10.24938/kutfd.1257034 Open-access full textSource: OpenAlex

View all 18 publications