Bilimsel çalışmalar

Doç. Dr. Sevgi Yimenicioğlu

65 yayın. Her yayının yanında bilginin kaynağı yazar.

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  1. Epilepsi tanılı çocuğu olan ebeveynlerin epilepsiye ilişkin bilgi düzeyleri ve damgalanma algılarının değerlendirilmesi: Tanımlayıcı bir çalışma

    Ağrı Tıp Fakültesi Dergisi, 2026

    DOI 10.61845/agrimedical.1798384 Açık erişimli tam metinKaynak: ORCID

  2. Clinical and molecular spectrum of TSC1 and TSC2 mutations in pediatric tuberous sclerosis complex: Report of five novel variants

    Neurology Asia, 2026

    DOI 10.54029/2026jwy Açık erişimli tam metinKaynak: ORCID

  3. Concomitant Antiseizure Medications' Influence on Valproic Acid and Levetiracetam Pharmacokinetics in Pediatric Patients

    Pediatrics International, 2026

    DOI 10.1111/ped.70510 PMID 42590959 Açık erişimli tam metinKaynak: ORCID

  4. Prenatal diagnosis of fetal left transverse venous sinus thrombosis with intracranial hemorrhage: imaging findings and short-term outcome

    Pediatric Radiology, 2025

    DOI 10.1007/s00247-025-06475-0 PMID 41258972 1 atıf (OpenAlex) Kaynak: OpenAlex

  5. Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report

    The Turkish Journal of Pediatrics, 2025

    DOI 10.24953/turkjpediatr.2025.6246 PMID 41636192 Açık erişimli tam metinKaynak: ORCID

  6. NEURODEVELOPMENTAL OUTCOMES IN PRETERM INFANTS

    Eskisehir Medical Journal, Eskisehir City Hospital, 2024

    DOI 10.48176/esmj.2024.163 Açık erişimli tam metinKaynak: ORCID

  7. Interstitial 3p25.3 deletion syndrome: 13 years'-long follow-up of an affected individual

    Clinical Dysmorphology, 2024

    DOI 10.1097/mcd.0000000000000503 PMID 38856647 1 atıf (Scopus) Kaynak: Scopus

  8. Hot water epilepsy with alone and spontaneous seizures in childhood

    Epilepsy Research, 2024

    DOI 10.1016/j.eplepsyres.2024.107418 PMID 39003967 Kaynak: Scopus

  9. Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate

    Clinical Neurology and Neurosurgery, 2024

    DOI 10.1016/j.clineuro.2023.108045 PMID 38091702 Kaynak: Scopus

  10. Temel Pediatrik Nöroloji: Tanı ve Tedavi 4. Cilt

    Akademisyen Kitabevi eBooks, 2023

    DOI 10.37609/akya.2033 Açık erişimli tam metinKaynak: OpenAlex

  11. First report of tethered cord syndrome in a patient with Verheij syndrome

    Ophthalmic Genetics, 2023

    DOI 10.1080/13816810.2022.2121968 PMID 36134573 3 atıf (Europe PMC) Kaynak: ORCID

  12. The factors affecting neurodevelopmental outcomes in HIE

    Acta Neurologica Belgica, 2023

    DOI 10.1007/s13760-022-02126-5 PMID 36352199 5 atıf (Scopus) Kaynak: ORCID

  13. De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy

    Neurology Asia, 2023

    DOI 10.54029/2023mru Açık erişimli tam metinKaynak: ORCID

  14. Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study

    Molecular Biology Reports, 2023

    DOI 10.1007/s11033-022-08148-9 PMID 36462087 Kaynak: ORCID

  15. Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum

    Pediatric Neurology, 2023

    DOI 10.1016/j.pediatrneurol.2022.11.005 PMID 36493596 10 atıf (Scopus) Kaynak: ORCID

  16. A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

    The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023

    DOI 10.1186/s41983-023-00608-8 1 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

  17. Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants

    Pediatric Neurology, 2023

    DOI 10.1016/j.pediatrneurol.2023.08.036 PMID 37806041 7 atıf (Scopus) Kaynak: Scopus

  18. A randomized controlled study: Evaluating the efficacy of a mobile application developed for mothers who have children with epilepsy in Turkiye

    Journal of Pediatric Nursing, 2023

    DOI 10.1016/j.pedn.2023.02.010 PMID 36870141 8 atıf (Scopus) Kaynak: Scopus

  19. A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance

    Neurology Asia, 2023

    DOI 10.54029/2023jyx 1 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

  20. The Novel Homozygous ADCY6 c.413G>A; p.R138H gene Variant Associated with Lethal Congenital Contracture Syndrome 8 in a Female Patient with Epilepsy and Pachygyria

    Hong Kong Journal of Paediatrics, 2023

    1 atıf (Scopus) Kaynak: Scopus

  21. Antiepileptic Drug Adverse Cutaneous Reaction in Childhood

    Journal of Pediatric Epilepsy, 2022

    DOI 10.1055/s-0042-1749344 1 atıf (OpenAlex) Kaynak: ORCID

  22. Is Levetiracetam Monotherapy Effective And Safe In Children With Epilepsy

    Eskisehir Medical Journal, Eskisehir City Hospital, 2022

    DOI 10.48176/esmj.2022.86 Açık erişimli tam metinKaynak: ORCID

  23. Generalized tetanus in an eight-year-old girl: a case report

    The European Research Journal, 2022

    DOI 10.18621/eurj.1049854 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

  24. Case Report Presentation: Measles as the Cause of Cerebral Venous Sinus Thrombosis in Childhood

    Pediatric Academic Case Reports, 2022

    DOI 10.61107/pacr.2022.023 Açık erişimli tam metinKaynak: ORCID

  25. A Novel Mutation in the TBC1D20 Gene with Associated Warburg Micro Syndrome

    Batı Karadeniz Tıp Dergisi, 2022

    DOI 10.29058/mjwbs.1024327 Açık erişimli tam metinKaynak: ORCID

  26. Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

    Global Medical Genetics, 2022

    DOI 10.1055/s-0042-1743261 PMID 35707779 3 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

  27. COVID-19 Symptoms with Pre-Existing and Not Pre-Existing Neurological Disorders in Pediatrics

    Journal of Pediatric Infectious Diseases, 2022

    DOI 10.1055/s-0042-1748921 Kaynak: ORCID

  28. Koolen-de Vries syndrome: A de novo missense KANSL1 variant

    Clinical Neurology and Neurosurgery, 2022

    DOI 10.1016/j.clineuro.2022.107444 PMID 36150256 2 atıf (Scopus) Kaynak: Scopus

  29. Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome

    Indian Journal of Ophthalmology, 2022

    DOI 10.4103/ijo.ijo_1061_22 PMID 35791240 3 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

  30. A novel splice-site variant in the MCPH1 gene manifests with autosomal recessive primary microcephaly

    Neurology Asia, 2022

    DOI 10.54029/2022vtk Açık erişimli tam metinKaynak: Scopus

  31. Response to “SARS-CoV-2 related encephalitis requires documentation of the virus in the cerebrospinal fluid”

    Turkish Journal of Pediatrics, 2022

    DOI 10.24953/turkjped.2022.759-1 PMID 36583905 Açık erişimli tam metinKaynak: Scopus

  32. Lethal encephalitis in a pediatric patient with SARS-CoV-2

    Turkish Journal of Pediatrics, 2022

    DOI 10.24953/turkjped.2021.1142 PMID 35899571 4 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

  33. Acute cerebellar ataxia in a child: Rotavirus coinfection with SARS-CoV-2

    Zeynep Kamil Medical Journal, 2022

    DOI 10.14744/zkmj.2022.00921 Kaynak: OpenAlex

  34. A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation

    Neurology Asia, 2021

    DOI 10.54029/2021ryp 1 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

  35. Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus

    Egyptian Journal of Medical Human Genetics, 2021

    DOI 10.1186/s43042-021-00205-5 Açık erişimli tam metinKaynak: Scopus

  36. Evaluation of clinical findings and treatment options of Sydenham chorea patients

    Journal of Surgery and Medicine, 2021

    DOI 10.28982/josam.804833 3 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  37. Nörokütan Hastalıkların Tarihi ve Sınıflandırması

    2021

    Kaynak: OpenAlex

  38. Allen-Herndon-Dudley Sendromunda yeni Bir Hemizigot SLC16A2 nonsense mutasyonu

    DergiPark (Istanbul University), 2021

    Açık erişimli tam metinKaynak: OpenAlex

  39. Çocukluk Çağında Narkolepsi

    2020

    Kaynak: OpenAlex

  40. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)

    Human Vaccines and Immunotherapeutics, 2019

    DOI 10.1080/21645515.2018.1526588 PMID 30235060 65 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

  41. Tüberoskleroz Kompleksi Hastalarının Klinik ve Demografik Özellikleri

    OSMANGAZİ JOURNAL OF MEDICINE, 2019

    DOI 10.20515/otd.594858 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  42. Diagnostic effectiveness of muscle biopsy in neuromuscular diseases; Four years retrospective critical review

    The Anatolian Journal of General Medical Research, 2019

    DOI 10.5222/terh.2019.99267 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  43. Febril Nöbet Geçiren Çocuklarda Akuaporin 4 Gen Polimorfizmi

    OSMANGAZİ JOURNAL OF MEDICINE, 2018

    DOI 10.20515/otd.469491 Açık erişimli tam metinKaynak: OpenAlex

  44. Hot Water Epilepsy Successfully Treated with Daily Clobazam

    Pediatric Emergency Care, 2017

    DOI 10.1097/pec.0000000000000659 PMID 26959518 3 atıf (Scopus) Kaynak: ORCID

  45. Microcephaly-Lymphedema-Chorioretinal Dysplasia Syndrome: Two Case Reports

    International Journal of Clinical Pediatrics, 2017

    DOI 10.14740/ijcp275w 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  46. Nörofibromatozis Tip 1: 49 Olgunun Değerlendirilmesi

    Haydarpaşa Numune Eğitim ve Araştırma Hastanesi Tıp Dergisi, 2017

    1 atıf (OpenAlex) Kaynak: OpenAlex

  47. The evaluation of epilepsy and other contributing disorders in patients with cerebral palsy using the Gross Motor Function Classification System

    The European Research Journal, 2017

    DOI 10.18621/eurj.294051 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

  48. Griscelli Syndrome with neurological deterioration: A case report.

    The Medical Journal of Okmeydani Training and Research Hospital, 2017

    DOI 10.5222/otd.2017.1117 1 atıf (OpenAlex) Kaynak: OpenAlex

  49. Hemi-meningitis with hemophagocytic lymphohistiocytosis

    Annals of Indian Academy of Neurology, 2016

    DOI 10.4103/0972-2327.165458 PMID 27570395 1 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

  50. Subcutaneous Fat Necrosis Associated with hypo/Hypercalcemia and Brachiall Plexopathy

    Journal of Dr Behcet Uz Children s Hospital, 2016

    DOI 10.5222/buchd.2016.081 Açık erişimli tam metinKaynak: OpenAlex