Paediatric Genetic Diseases

Uzm. Dr. Gökcen Karamık

Doctor and researcher Antalya Şehir Hastanesi Antalya
Abnormalities, MultipleIntellectual Disability
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Abnormalities, Multiple 2 publications
    Source: OpenAlex / PubMed MeSHView 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
  • InstitutionAntalya Şehir Hastanesisaglik.gov.trFrom source
  • Area of workAbnormalities, MultipleExtracted from 2 publications · Model version —From source
  • Publications5 publicationsEurope PMC, OpenAlexFrom source
  • ORCID0000-0002-8678-1666ORCIDFrom source
  • Last synchronised7 November 2026 00:03https://antalyasehir.saglik.gov.tr/TR-1239470/doktorlarimiz.html#gokcen-karamiksaglik.gov.tr

Scientific work

Publications on Abnormalities, Multiple

5 publications

  1. Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1

    European journal of pediatrics, 2025

    DOI 10.1007/s00431-025-06347-7 PMID 40742416 3 citations (Europe PMC) Open-access full textSource: Europe PMC

  2. The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review

    American Journal of Medical Genetics Part A, 2023

    DOI 10.1002/ajmg.a.63207 PMID 37053206 8 citations (Europe PMC) Source: OpenAlex

  3. 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

  4. Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects

    The Journal of Pediatric Research, 2022

    DOI 10.4274/jpr.galenos.2022.76993 Open-access full textSource: OpenAlex

  5. Relationship Between the Levels of 25-hydroxyvitamin D at Presentation and the Clinical, Laboratory and Follow-up Data of Children and Adolescents with Type-1 Diabetes Mellitus

    Journal of Academic Research in Medicine, 2021

    DOI 10.4274/jarem.galenos.2021.3947 Open-access full textSource: OpenAlex