Paediatric Genetic Diseases

Uzm. Dr. Merve Soğukpınar

Doctor and researcher SBÜ. Van Eğitim ve Araştırma Hastanesi Van
DwarfismCraniosynostosesAbnormalities, MultipleTooth AbnormalitiesLimb Deformities, Congenital
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Dwarfism 3 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Craniosynostoses 2 publications
  • Abnormalities, Multiple 2 publications
  • Tooth Abnormalities 2 publications
  • Limb Deformities, Congenital 2 publications

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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.

  • SpecialtyPaediatric Genetic Diseasessaglik.gov.trFrom source
  • InstitutionSBÜ. Van Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Area of workDwarfismExtracted from 3 publications · Model version —From source
  • Publications22 publicationsORCID, OpenAlexFrom source
  • ORCID0000-0003-2368-5797ORCIDFrom source
  • Last synchronised5 November 2026 10:47https://vaneah.saglik.gov.tr/TR-893746/cocuk-genetik-hastaliklari.html#merve-sogukpinarsaglik.gov.tr

Scientific work

Publications on Dwarfism

22 publications
Publications by year Most: 9, in 2026
  1. 2023: 2 publications
  2. 2024: 7 publications
  3. 2025: 4 publications
  4. 2026: 9 publications

  1. When the mimic meets reality: AQP4-IgG seroconversion in a patient with profound biotinidase deficiency presenting with an NMOSD- like phenotype

    Neurology Asia, 2026

    DOI 10.54029/2026kre Open-access full textSource: ORCID

  2. Sandestig-Stefanova Syndrome: A Case Report Highlighting an Expanded Phenotypic Spectrum and a Novel Homozygous NUP188 Variant

    Molecular Syndromology, 2026

    DOI 10.1159/msy/adrag002 1 citation (OpenAlex) Source: ORCID

  3. Scaphocephaly as a Novel Phenotypic Feature of WDR83OS‐Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review

    International Journal of Developmental Neuroscience, 2026

    DOI 10.1002/jdn.70153 PMID 42397082 Source: ORCID

  4. Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence

    Molecular Syndromology, 2026

    DOI 10.1159/000553440 PMID 42598376 Open-access full textSource: ORCID

  5. A Novel Homozygous Frameshift GTPBP2 Variant in Jaberi-Elahi Syndrome: First Case Report from Türkiye

    Molecular Syndromology, 2026

    DOI 10.1159/000552675 PMID 42553919 1 citation (OpenAlex) Open-access full textSource: ORCID

  6. Novel TTN Variant Causing Salih Myopathy and Coexisting Thyroid Dyshormonogenesis: A Case Report

    Pediatrics International, 2026

    DOI 10.1111/ped.70404 PMID 41988830 Source: ORCID

  7. Assessment of Criminal Responsibility in a Child in Conflict with the Law: Case of Williams-Beuren Syndrome

    Turkiye Klinikleri Journal of Forensic Medicine and Forensic Sciences, 2026

    DOI 10.5336/forensic.2026-120171 Open-access full textSource: OpenAlex

  8. Syndromic and monogenic obesity in children from a population with frequent consanguinity: molecular spectrum and association with parental consanguinity

    Research Square, 2026

    DOI 10.21203/rs.3.rs-11361859/v1 Open-access full textSource: OpenAlex

  9. Previously Undiagnosed Clinically Significant Neurogenetic Disorders in Neonates Treated for Presumed Hypoxic–Ischemic Encephalopathy: A Real-World Cohort Study

    Children, 2026

    DOI 10.3390/children13111490 Open-access full textSource: OpenAlex

  10. 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

View all 22 publications