Medical Genetics

Uzm. Dr. Fırat Özçelik

Doctor and researcher Kütahya Şehir Hastanesi Kütahya
Abnormalities, MultipleCOVID-19
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Abnormalities, Multiple 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • COVID-19 2 publications

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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • InstitutionKütahya Şehir Hastanesisaglik.gov.trFrom source
  • Area of workAbnormalities, MultipleExtracted from 2 publications · Model version —From source
  • Publications20 publicationsORCID, OpenAlexFrom source
  • ORCID0000-0002-5537-7660ORCIDFrom source
  • Last synchronised5 November 2026 09:26https://kutahyasehir.saglik.gov.tr/TR-1175677/doktorlarimiz.html#firat-ozceliksaglik.gov.tr

Scientific work

Publications on Abnormalities, Multiple

20 publications

  1. Optogenetics: The Nobel-Winning Breakthrough and Its Implications in Biotechnology

    The EuroBiotech Journal, 2026

    DOI 10.2478/ebtj-2026-0023 Open-access full textSource: ORCID

  2. Investigation of testicular METRNL and RARRES2 expression in non-obstructive azoospermia

    Journal of Applied Genetics, 2026

    DOI 10.1007/s13353-026-01106-2 PMID 42581226 Source: ORCID

  3. Blended Hereditary Neuropathy Phenotype Caused by Biallelic PRX and SCN9A Variants: A Case Report

    Molecular Syndromology, 2026

    DOI 10.1159/000553320 PMID 42583656 Open-access full textSource: ORCID

  4. Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review

    Neurogenetics, 2026

    DOI 10.1007/s10048-026-00906-2 PMID 42104006 Source: ORCID

  5. Genotype–Phenotype Correlations in Phenylketonuria and Hyperphenylalaninemia: A Single‐Center Study

    Pediatrics International, 2026

    DOI 10.1111/ped.70441 PMID 42290321 Source: ORCID

  6. COVID-19 related mucormycosis and hemophagocytic lymphohistiocytosis in a child with juvenile myelomonocytic leukemia

    Trends in Pediatrics, 2025

    DOI 10.59213/tp.2025.229 Open-access full textSource: ORCID

  7. A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis

    Neurogenetics, 2025

    DOI 10.1007/s10048-025-00825-8 PMID 40448720 1 citation (Europe PMC) Source: ORCID

  8. Familial hemophagocytic lymphohistiocytosis case in adult age

    Journal of Current Hematology & Oncology Research, 2025

    DOI 10.51271/jchor-0060 Open-access full textSource: ORCID

  9. The seven enigmas of SARS-CoV-2: From the past to the future

    Journal of Human Immunity, 2025

    DOI 10.70962/jhi.20250149 PMID 41347066 5 citations (OpenAlex) Open-access full textSource: OpenAlex

  10. Deleterious variants in the autophagy-related gene RB1CC1/FIP200 impair immunity to SARS-CoV-2

    Nature Communications, 2025

    DOI 10.1038/s41467-025-65308-8 PMID 41309545 4 citations (OpenAlex) Open-access full textSource: OpenAlex

View all 20 publications