Medical Genetics

Uzm. Dr. Biray Ertürk

Doctor and researcher İstanbul Prof. Dr. Cemil Taşcıoğlu Şehir Hastanesi İstanbul
InfectionsImmunologic Deficiency SyndromesIntestinal Pseudo-ObstructionOphthalmoplegiaMitochondrial EncephalomyopathiesFamilial Mediterranean FeverDown Syndrome
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Infections 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Immunologic Deficiency Syndromes 2 publications
  • Intestinal Pseudo-Obstruction 2 publications
  • Ophthalmoplegia 2 publications
  • Mitochondrial Encephalomyopathies 2 publications
  • Familial Mediterranean Fever 2 publications
  • Down Syndrome 2 publications

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Where does this information come from?

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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • Institutionİstanbul Prof. Dr. Cemil Taşcıoğlu Şehir Hastanesisaglik.gov.trFrom source
  • Area of workInfectionsExtracted from 2 publications · Model version —From source
  • Publications28 publicationsORCID, Europe PMC, OpenAlexFrom source
  • ORCID0000-0002-0348-6267ORCIDFrom source
  • Last synchronised5 November 2026 08:55https://cemiltascioglush.saglik.gov.tr/TR-1563487/doktorlarimiz.html#biray-erturksaglik.gov.tr

Scientific work

Publications on Infections

28 publications

  1. A novel mutation in glycogen storage disease type XI presenting with neonatal cholestasis and infection-triggered hepatic flares

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2025-0654 PMID 42090597 Source: ORCID

  2. Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison

    Scandinavian journal of immunology, 2026

    DOI 10.1111/sji.70101 PMID 41708578 Open-access full textSource: Europe PMC

  3. Diagnosis of Paediatric Inborn Errors of Immunity in a MENA Cohort Referred for Recurrent Infections Using a Structured Clinical Algorithm: A Real-Life Cross-Sectional Study

    Journal of paediatrics and child health, 2026

    DOI 10.1111/jpc.70280 PMID 41498369 Source: Europe PMC

  4. Prenatal diagnosis and management of desbuquois dysplasia type 1 due to CANT1 mutation: A case report

    Taiwanese Journal of Obstetrics and Gynecology, 2025

    DOI 10.1016/j.tjog.2024.11.010 PMID 40368527 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  5. Genetic mutations and prognostic indicators in differentiated thyroid cancer: a molecular perspective

    Turkish journal of medical sciences, 2025

    DOI 10.55730/1300-0144.5944 PMID 40104288 2 citations (Europe PMC) Open-access full textSource: Europe PMC

  6. SCN1A DIŞINDAKİ SODYUM KANALOPATİLERİ: ÇOK MERKEZLİ ÇALIŞMA

    Kocaeli Üniversitesi - AVESİS, 2025

    Open-access full textSource: OpenAlex

  7. Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study

    Neuropediatrics, 2023

    DOI 10.1055/a-2034-8528 PMID 36787800 2 citations (Europe PMC) Open-access full textSource: OpenAlex

  8. A very early onset MNGIE-like syndrome with POLG1 mutation and accompanying leukoencephalopathy

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107712 PMID 37084649 4 citations (OpenAlex) Source: OpenAlex

  9. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes

    Clinical Neurology and Neurosurgery, 2023

    DOI 10.1016/j.clineuro.2023.107893 PMID 37455189 Source: OpenAlex

  10. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

    Clinical Neurology and Neurosurgery, 2022

    DOI 10.1016/j.clineuro.2022.107560 PMID 36580738 11 citations (Europe PMC) Source: OpenAlex

View all 28 publications