Bilimsel çalışmalar

Uzm. Dr. Büşra Kutlubay

35 yayın. Her yayının yanında bilginin kaynağı yazar.

Profile dön

  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 Açık erişimli tam metinKaynak: 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 Açık erişimli tam metinKaynak: 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 Açık erişimli tam metinKaynak: OpenAlex

  4. 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 Kaynak: ORCID

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

    The European Research Journal, 2025

    DOI 10.18621/eurj.1553885 Açık erişimli tam metinKaynak: 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 atıf (OpenAlex) Kaynak: 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 atıf (Europe PMC) Açık erişimli tam metinKaynak: 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 atıf (Europe PMC) Kaynak: 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 Kaynak: 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 atıf (Europe PMC) Kaynak: ORCID

  11. Evaluation of restless legs syndrome in children with allergic rhinitis

    Journal of Contemporary Medicine, 2023

    DOI 10.16899/jcm.1321009 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

  12. Chronic inflammatory demyelinating neuropathy after etanercept therapy in the course of juvenile idiopathic arthritis

    The Turkish Journal of Pediatrics, 2023

    DOI 10.24953/turkjped.2021.4573 PMID 36866999 3 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  13. Clinical Characteristics of Children with Neurodevelopmental Delay and Pathogenic Copy Number Variations in Chromosomal Microarray Analysis

    Çocuk Dergisi / Journal of Child, 2022

    DOI 10.26650/jchild.2022.1112958 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  14. HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies

    Acta neurologica Belgica, 2022

    DOI 10.1007/s13760-021-01649-7 PMID 33813722 7 atıf (Europe PMC) Kaynak: Europe PMC

  15. Therapeutic Plasma Exchange for Treating Pediatric Neurological Diseases

    Trends in Pediatrics, 2022

    DOI 10.4274/tp.galenos.2022.83997 4 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

  16. Clinical and Radiological Findings in Children with Cerebral Sinovenous Thrombosis

    Turkish Journal of Pediatric Disease, 2022

    DOI 10.12956/tchd.852458 Açık erişimli tam metinKaynak: ORCID

  17. Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis

    Brain and Development, 2021

    DOI 10.1016/j.braindev.2021.05.001 PMID 34120800 23 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  18. Evaluation Of The Relationship Between Pineal Cyst And Childhood Headache With Mr Imaging

    Sakarya Üniversitesi Kurumsal Açık Akademik Arşivi, 2021

    Kaynak: OpenAlex

  19. Glial fibrillary acidic protein (GFAP)-antibody in children with focal seizures of undetermined cause

    Acta Neurologica Belgica, 2020

    DOI 10.1007/s13760-020-01361-y PMID 32333263 19 atıf (OpenAlex) Kaynak: OpenAlex

  20. A rare variant of Guillain-Barre syndrome: Miller Fischer syndrome, evaluation of five patients

    European Journal of Paediatric Neurology, 2017

    DOI 10.1016/j.ejpn.2017.04.968 Kaynak: OpenAlex

  21. Treatment of epilepsy of infancy with migrating focal seizures associated with a novel CDKL5 mutation with potassium bromide

    European Journal of Paediatric Neurology, 2017

    DOI 10.1016/j.ejpn.2017.04.808 1 atıf (OpenAlex) Kaynak: OpenAlex

  22. Transient splenial lesion of corpus callosum: Clinical and radiological evaluation of five patients

    European Journal of Paediatric Neurology, 2017

    DOI 10.1016/j.ejpn.2017.04.1091 Kaynak: OpenAlex

  23. SINIFLANDIRILMAMIŞ OMUZ KALÇA KAVŞAK MİYOPATİSİ VE NONSPESİFİK CK YÜKSEKLİĞİ BULUNAN ÇOCUKLARDA GEÇ BAŞLANGIÇLI POMPE HASTALIĞI SIKLIĞI ÇOK MERKEZLİ ÇALIŞMA

    Kocaeli Üniversitesi - AVESİS, 2016

    Kaynak: OpenAlex

  24. The frequency of late-onset Pompe disease in pediatric patients with limb-girdle muscle weakness and nonspecific hyperCKemia: A multicenter study

    Neuromuscular Disorders, 2016

    DOI 10.1016/j.nmd.2016.09.001 PMID 27666774 21 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  25. Transient Splenial Lesion of the Corpus Callosum Related to Migraine with Aura in a Pediatric Patient

    Acta Medica (Hradec Kralove Czech Republic), 2016

    DOI 10.14712/18059694.2016.91 PMID 27526308 6 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  26. PP04.13 – 2780: The association of Moya Moya disease with pseudocoarctation: A case report

    European Journal of Paediatric Neurology, 2015

    DOI 10.1016/s1090-3798(15)30146-x 1 atıf (OpenAlex) Kaynak: OpenAlex

  27. PP15.9 – 2371: Pseudotumor cerebri: A single center experience in 24 patients

    European Journal of Paediatric Neurology, 2015

    DOI 10.1016/s1090-3798(15)30306-8 Kaynak: OpenAlex

  28. PP08.7 – 2364: Atypical Guillain Barré syndrome with preserved deep tendon reflexes: report of three cases

    European Journal of Paediatric Neurology, 2015

    DOI 10.1016/s1090-3798(15)30203-8 Kaynak: OpenAlex

  29. PP13.13 – 2289: Delayed diagnosis of neuro-Behçet's disease: Report of 3 cases

    European Journal of Paediatric Neurology, 2015

    DOI 10.1016/s1090-3798(15)30284-1 Kaynak: OpenAlex

  30. P104 – 2363: Transient splenial lesion of the corpus callosum related to migraine with aura in a pediatric patient

    European Journal of Paediatric Neurology, 2015

    DOI 10.1016/s1090-3798(15)30417-7 Kaynak: OpenAlex

  31. PO-0163 Effect Of Nutrition With Follow-up Formula From 6th Month Of Age On The Complete Blood Count And Iron Levels Of Infants (preliminary Trial)

    2014

    DOI 10.1136/archdischild-2014-307384.825 Açık erişimli tam metinKaynak: OpenAlex

  32. On dört yaşında akut lenfoblastik lösemili hastada düzelmeyen taşikardi

    Türk Pediatri Arşivi, 2013

    DOI 10.4274/tpa.665 Açık erişimli tam metinKaynak: OpenAlex

  33. 253 Management of Hemangiomas: A Single Center Experience

    Archives of Disease in Childhood, 2012

    DOI 10.1136/archdischild-2012-302724.0253 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  34. 746 Glazmann Thrombasthenia: Single Center Experience

    Archives of Disease in Childhood, 2012

    DOI 10.1136/archdischild-2012-302724.0746 Açık erişimli tam metinKaynak: OpenAlex

  35. Arg753Gln polymorphism of the human Toll-like receptor 2 gene from infection to disease in pediatric tuberculosis

    Human Immunology, 2011

    DOI 10.1016/j.humimm.2011.02.001 PMID 21320563 51 atıf (Europe PMC) Açık erişimli tam metinKaynak: OpenAlex