Paediatric Neurology

Uzm. Dr. Büşra Kutlubay

Doctor and researcher Ümraniye Eğitim ve Araştırma Hastanesi İstanbul
Autism Spectrum DisorderEpilepsyBrain Diseases
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Person ↔ Disease

Which diseases does this doctor work on?

From source
  • Autism Spectrum Disorder 2 publications
    Source: OpenAlex / PubMed MeSHView publications
  • Epilepsy 2 publications
  • Brain Diseases 2 publications

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Where does this information come from?

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  • SpecialtyPaediatric Neurologysaglik.gov.trFrom source
  • Department name at the sourceÇocuk Nörolojisaglik.gov.trFrom source
  • InstitutionÜmraniye Eğitim ve Araştırma Hastanesisaglik.gov.trFrom source
  • Area of workAutism Spectrum DisorderExtracted from 2 publications · Model version —From source
  • Publications35 publicationsOpenAlex, ORCID, Europe PMCFrom source
  • ORCID0000-0002-6216-1438ORCIDFrom source
  • Last synchronised5 November 2026 08:56https://umraniyeah.saglik.gov.tr/TR-1512994/doktorlarimiz.html#busra-kutlubaysaglik.gov.tr

Scientific work

Publications on Autism Spectrum Disorder

35 publications

  1. Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches

    Frontiers in Neurology, 2026

    DOI 10.3389/fneur.2026.1742186 PMID 41835067 Open-access full textSource: OpenAlex

  2. Identification of Cerebrotendinous Xanthomatosis in High-Risk Children Using a Suspicion Index–Based Screening Strategy

    Research Square, 2026

    DOI 10.21203/rs.3.rs-10809714/v1 Open-access full textSource: OpenAlex

  3. Fokal epilepsili çocuklarda monoterapi olarak levetirasetam ve karbamazepinin karşılaştırılması

    Ümraniye Pediatri Dergisi - Journal of Umraniye Pediatrics, 2026

    DOI 10.14744/upd.2026.88700 Open-access full textSource: OpenAlex

  4. Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1

    The European Research Journal, 2025

    DOI 10.18621/eurj.1553885 Open-access full textSource: ORCID

  5. Multilayered genetic dissection of autism: insights from whole-exome sequencing, molecular karyotyping, and cytogenetic analyses in a small Turkish cohort

    Neurogenetics, 2025

    DOI 10.1007/s10048-025-00873-0 PMID 41420732 Source: ORCID

  6. Epilepsy as a multifaceted neurological disease: insights from a genetic study of novel gene variants

    Brain and Development, 2025

    DOI 10.1016/j.braindev.2025.104418 PMID 40818193 1 citation (OpenAlex) Source: OpenAlex

  7. Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants

    Journal of Clinical Research in Pediatric Endocrinology, 2024

    DOI 10.4274/jcrpe.galenos.2023.2023-7-1 PMID 38212959 1 citation (Europe PMC) Open-access full textSource: OpenAlex

  8. Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis

    Molecular genetics and genomics : MGG, 2024

    DOI 10.1007/s00438-024-02210-w PMID 39722056 5 citations (Europe PMC) Source: Europe PMC

  9. Evaluation of the frequency of restless legs syndrome in children diagnosed with allergic diseases

    Journal of Asthma, 2024

    DOI 10.1080/02770903.2024.2438109 PMID 39628098 Source: OpenAlex

  10. The course of sleep habits in newly diagnosed epilepsy in children: A prospective study

    Epilepsy & Behavior, 2023

    DOI 10.1016/j.yebeh.2023.109150 PMID 36871321 3 citations (Europe PMC) Source: ORCID

View all 35 publications