Medical Genetics

Prof. Dr. Berk Özyılmaz

Doctor and researcher İzmir Şehir Hastanesi İzmir
EpilepsyMigraine DisordersFamilial Mediterranean FeverLung NeoplasmsKidney Failure, Chronic
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Epilepsy 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Migraine Disorders 2 publications
  • Familial Mediterranean Fever 2 publications
  • Lung Neoplasms 2 publications
  • Kidney Failure, Chronic 2 publications

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Where does this information come from?

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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • Institutionİzmir Şehir Hastanesisaglik.gov.trFrom source
  • Area of workEpilepsyExtracted from 2 publications · Model version —From source
  • Publications110 publicationsOpenAlex, ORCIDFrom source
  • ORCID0000-0003-2654-3698ORCIDFrom source
  • Last synchronised5 November 2026 09:07https://izmirsehir.saglik.gov.tr/TR-1046642/doktorlarimiz.html#berk-ozyilmazsaglik.gov.tr

Scientific work

Publications on Epilepsy

110 publications

  1. Neonatal-onset genetic epilepsies: Insights from a large multicentre cohort

    Seizure, 2026

    DOI 10.1016/j.seizure.2026.04.028 PMID 42114232 Source: OpenAlex

  2. Clinical and Genetic Heterogeneity of Congenital Myasthenic Syndromes: Insights From a Large Cohort

    Neurology and Clinical Neuroscience, 2026

    DOI 10.1111/ncn3.70057 Open-access full textSource: ORCID

  3. IQSEC2 Mutation-Related Rett Syndrome

    Journal of Pediatric Epilepsy, 2026

    DOI 10.53391/2146-4588.1007 Source: OpenAlex

  4. Symptom-based classification of 16p11.2 copy number variations underlying the multidimensional autism spectrum disorder phenotype using machine learning methods

    Research in Autism, 2026

    DOI 10.1016/j.reia.2026.202865 Open-access full textSource: OpenAlex

  5. Genetic and Clinical Determinants of Chronic Thromboembolic Pulmonary Hypertension: The Role of PAI-1 Polymorphism

    International Journal of Molecular Sciences, 2026

    DOI 10.3390/ijms27020758 PMID 41596405 Open-access full textSource: ORCID

  6. MCPH1 and DNA Damage Response Pathway Genes as Candidate Susceptibility Loci in Hereditary Breast Cancer

    Diagnostics, 2026

    DOI 10.3390/diagnostics16182967 PMID 42793752 Open-access full textSource: ORCID

  7. Genetic Landscape of Pediatric Dyslipidemia in a Turkish Cohort: Insights From a Single‐Center Experience

    Annals of Human Genetics, 2026

    DOI 10.1111/ahg.70028 PMID 41084934 Source: ORCID

  8. Characterization of the molecular and clinical features of Multilocus Inherited Neoplasia Allelic Syndrome (MINAS) cases in the Turkish population

    Familial Cancer, 2026

    DOI 10.1007/s10689-026-00577-w PMID 42258060 1 citation (Europe PMC) Source: ORCID

  9. Expanding mutational landscape and clinical phenotype of the CASK-related neurological disorders

    Journal of Human Genetics, 2026

    DOI 10.1038/s10038-026-01523-5 Source: ORCID

  10. A novel sporadic sodium channel mutation in a young adult patient with paramyotonia congenita

    Turkish Journal of Neurology, 2026

    DOI 10.55697/tnd.2026.514 Open-access full textSource: ORCID

View all 110 publications