Medical Genetics

Uzm. Dr. Özgür Kırbıyık

Doctor and researcher İzmir Şehir Hastanesi İzmir
Abnormalities, MultipleLung NeoplasmsDwarfismMuscle WeaknessSeizuresDiabetes Mellitus, Type 2Hearing Loss, SensorineuralIntellectual Disability
Open institution page
Suggest a correction

Is this your profile? Claim it and verify your details.

Claim profile

Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Abnormalities, Multiple 5 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Lung Neoplasms 3 publications
  • Dwarfism 2 publications
  • Muscle Weakness 2 publications
  • Seizures 2 publications
  • Diabetes Mellitus, Type 2 2 publications
  • Hearing Loss, Sensorineural 2 publications
  • Intellectual Disability 2 publications

Trust

Where does this information come from?

The source is stated next to each piece of information. If you see something wrong, you can suggest a correction.

  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • Institutionİzmir Şehir Hastanesisaglik.gov.trFrom source
  • Area of workAbnormalities, MultipleExtracted from 5 publications · Model version —From source
  • Publications74 publicationsORCID, OpenAlex, Europe PMCFrom source
  • ORCID0000-0003-1333-2007ORCIDFrom source
  • Last synchronised5 November 2026 09:07https://izmirsehir.saglik.gov.tr/TR-1046642/doktorlarimiz.html#ozgur-kirbiyiksaglik.gov.tr

Scientific work

Publications on Abnormalities, Multiple

74 publications

  1. 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

  2. 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

  3. 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

  4. 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

  5. Genotype–phenotype correlations in children with short stature: results of targeted next-generation sequencing

    Journal of Pediatric Endocrinology and Metabolism, 2026

    DOI 10.1515/jpem-2026-0267 PMID 42446396 Source: ORCID

  6. Atypical Presentation and Course of ACTH-Independent Cushing’s Syndrome in Two Families

    Journal of clinical research in pediatric endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2023.2023-9-15 PMID 38084047 Open-access full textSource: Europe PMC

  7. Cordocentesis for Rapid Cytogenetic Diagnosis: A Retrospective Cohort Study of 160 Cases Cytogenetic Diagnosis by Cordocentesis: Retrospective Analysis

    Southern Clinics of Istanbul Eurasia, 2026

    DOI 10.14744/scie.2026.80378 Open-access full textSource: OpenAlex

  8. Expanding the reproductive spectrum of congenital leptin deficiency: Spontaneous pregnancies and long-term metreleptin therapy in two siblings with a candidate novel LEP variant

    Obesity Research & Clinical Practice, 2026

    DOI 10.1016/j.orcp.2026.10.002 PMID 42855325 Source: OpenAlex

  9. FKBP10 Variants: Differentiation Between Bruck Syndrome Type 1 And Osteogenesıs Imperfecta Type XI

    Journal of Clinical Research in Pediatric Endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2025.2025-8-4 PMID 41243835 Open-access full textSource: OpenAlex

  10. Prenatal Diagnosis of HSPG2-Related Dyssegmental Dysplasia: The First Report From Turkey

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64152 PMID 40503612 Source: ORCID

View all 74 publications