Paediatric Genetic Diseases

Uzm. Dr. Öznur Yılmaz Bayer

Doctor and researcher Bursa Şehir Hastanesi Bursa
Bone Diseases, DevelopmentalTooth AbnormalitiesAbnormalities, MultipleIntellectual Disability

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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Bone Diseases, Developmental 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Tooth Abnormalities 2 publications
  • Abnormalities, Multiple 2 publications
  • Intellectual Disability 2 publications

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Where does this information come from?

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  • SpecialtyPaediatric Genetic Diseasessaglik.gov.trFrom source
  • InstitutionBursa Şehir Hastanesisaglik.gov.trFrom source
  • Area of workBone Diseases, DevelopmentalExtracted from 2 publications · Model version —From source
  • Publications6 publicationsEurope PMC, OpenAlexFrom source
  • ORCID0000-0002-1883-0278ORCIDFrom source
  • Last synchronised7 November 2026 00:03https://bursasehir.saglik.gov.tr/TR-1250371/doktorlarimiz.html#oznur-yilmaz-bayersaglik.gov.tr

Scientific work

Publications on Bone Diseases, Developmental

6 publications
  1. The first neonatal case of Juvenile Paget disease with homozygous deletion in the <i>TNFRSF11B</i> gene

    Journal of pediatric endocrinology & metabolism : JPEM, 2026

    DOI 10.1515/jpem-2026-0056 PMID 42112796 Source: Europe PMC

  2. Clinical and Molecular Spectrum of KBG Syndrome in the Largest Independent Turkish Cohort

    Balkan medical journal, 2026

    DOI 10.4274/balkanmedj.galenos.2026.2026-7-44 PMID 42808190 Open-access full textSource: Europe PMC

  3. Developmental Convergence of Cryptorchidism: A Genotype–Phenotype Analysis Across Genetically Heterogeneous Developmental Disorders

    Preprints.org, 2026

    DOI 10.20944/preprints202609.1958.v1 Open-access full textSource: OpenAlex

  4. Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64128 PMID 40459271 2 citations (OpenAlex) Open-access full textSource: OpenAlex

  5. Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant

    The Turkish Journal of Pediatrics, 2023

    DOI 10.24953/turkjped.2022.793 PMID 36866988 3 citations (OpenAlex) Open-access full textSource: OpenAlex

  6. Neuropsychiatric adverse drug reactions induced by montelukast impair the quality of life in children with asthma

    Journal of Asthma, 2020

    DOI 10.1080/02770903.2020.1861626 PMID 33287615 17 citations (OpenAlex) Source: OpenAlex