Medical Genetics

Uzm. Dr. Ali Gülen

Doctor and researcher Uşak Eğitim ve Araştırma Hastanesi Uşak
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  • SpecialtyMedical Geneticssaglik.gov.trFrom source
  • InstitutionUşak Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Publications4 publicationsORCID, OpenAlexFrom source
  • ORCID0000-0002-3050-7887ORCIDFrom source
  • Last synchronised5 November 2026 10:44https://usakeah.saglik.gov.tr/TR-1055512/doktorlarimiz.html#ali-gulensaglik.gov.tr

Scientific work

Publications

4 publications

  1. Multimodal imaging of the autosomal recessive spastic ataxia of Charlevoix-Saguenay phenotype

    Turkish Journal of Neurology, 2026

    DOI 10.55697/tnd.2026.655 Open-access full textSource: ORCID

  2. Residual risk after familial RYR1 testing: interpreting malignant hyperthermia susceptibility in the context of regional testing strategies

    European Journal of Human Genetics, 2026

    DOI 10.1038/s41431-026-02155-1 PMID 42321436 Source: ORCID

  3. ASPM-Related Primary Microcephaly Presenting with Severe Gyral Simplification and Cerebellar Hypoplasia: A Case Report

    Molecular Syndromology, 2026

    DOI 10.1159/msy/adrag008 PMID 42924086 Open-access full textSource: OpenAlex

  4. MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9

    Clinical Dysmorphology, 2023

    DOI 10.1097/mcd.0000000000000460 PMID 37195360 2 citations (Europe PMC) Source: ORCID