115 results on '"Isikay, Sedat"'
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2. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
3. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
4. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
5. Botulinum toxin type A for the treatment of limb myokymia: Experiences of three children
6. Childhood pineal glioblastoma: Case report
7. Late diagnosis of pyridoxine-dependent epilepsy in two adolescent siblings
8. Neuroinfluenza: evaluation of seasonal influenza associated severe neurological complications in children (a multicenter study)
9. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
10. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
11. Multiple cerebral hemorrhages during the course of Guillain-Barre syndrome: A case report
12. Hereditary chin trembling
13. Routine Interictal EEG Recording Should be Performed Together with Simultaneous Two-Lead ECG Recording
14. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
15. Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene
16. Prevalence of orthorexia among medical students in Erzurum, Turkey
17. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
18. Craniofacial Morphometric Measurements of Children with Celiac Disease
19. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
20. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
21. Ankle2, a Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway
22. Phenotypic expansion illuminates multilocus pathogenic variation
23. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
24. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)
25. Peripheral Neuropathy: Not a Feature of Childhood Thalassemia
26. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
27. Craniofacial Morphometric Measurements of Children with Celiac Disease.
28. A multicenter cross-sectional study to evaluate the clinical characteristics and nutritional status of children with cerebral palsy
29. Evaluation of two non-myasthenic patients with ptosis
30. Neuroinfluenza: evaluation of seasonal influenza associated severe neurological complications in children (a multicenter study)
31. A Rare Central Nervous System Anomaly in a Tuberous Sclerosis Case with Gelastic Seizures: Corpus Callosum Agenesis
32. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study).
33. Brucellosis presenting with Guillain–Barré syndrome
34. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
35. Two Cases with Normocomplementhemic Urticarial Vasculitis: The Other Reasons Should Be Determined
36. Contribution of Plain X-Rays to the Diagnosis of Rhiozomelic Chondrodysplasia Punctata: Report of Two Cases
37. A Retrospective Evaluation of the Patients with Rhabdomyoma
38. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
39. The value of X-ray graphy in the diagnosis of the rhiozomelic chondrodysplasia punctata: a case report
40. A rare cause of basal ganglia calcification: Down syndrome
41. A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: Coincidence or a new syndrome?
42. An infant with trisomy 15 mosaicism
43. Complete Gastric Outlet Obstruction Due to Corrosive Ingestion in an Infant: A Rare Cause of Vomiting
44. Evaluation of Patients with Metoclopramide-Induced Acute Dystonic Reaction
45. Acute bacterial meningitis in childhood: analysis of 20 cases
46. A syndrome extent to heart from the ear: Goldenhar's Syndrome
47. Crimean Congo Hemorrhagic Fever: A Case Report
48. Two Cases of Rare Cerebral Hydatid Cyst
49. Eyelid Myoclonia With Absence Seizures in a Child With l-2 Hydroxyglutaric Aciduria: Findings of Magnetic Resonance Imaging
50. A Case of Late Diagnosed Hiperekplexia
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