125 results on '"Isikay, Sedat"'
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2. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
3. Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly
4. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
5. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
6. Botulinum toxin type A for the treatment of limb myokymia: Experiences of three children
7. Childhood pineal glioblastoma: Case report
8. Late diagnosis of pyridoxine-dependent epilepsy in two adolescent siblings
9. Neuroinfluenza: evaluation of seasonal influenza associated severe neurological complications in children (a multicenter study)
10. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
11. Multiple cerebral hemorrhages during the course of Guillain-Barre syndrome: A case report
12. Hereditary chin trembling
13. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
14. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
15. Routine Interictal EEG Recording Should be Performed Together with Simultaneous Two-Lead ECG Recording
16. Prevalence of orthorexia among medical students in Erzurum, Turkey
17. Congenital muscular dystrophy due to novel compound heterozygote mutations in POMGNT1 gene
18. BiallelicGRM7variants cause epilepsy, microcephaly, and cerebral atrophy
19. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
20. Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish
21. Craniofacial Morphometric Measurements of Children with Celiac Disease
22. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
23. Ankle2, a Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway
24. Phenotypic expansion illuminates multilocus pathogenic variation
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. Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
29. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study)
30. A multicenter cross-sectional study to evaluate the clinical characteristics and nutritional status of children with cerebral palsy
31. Evaluation of two non-myasthenic patients with ptosis
32. Occipital cortex dysgenesis with white matter changes due to mutations in Laminin alpha 2
33. Neuroinfluenza: evaluation of seasonal influenza associated severe neurological complications in children (a multicenter study)
34. A Rare Central Nervous System Anomaly in a Tuberous Sclerosis Case with Gelastic Seizures: Corpus Callosum Agenesis
35. Viral etiological causes of febrile seizures for respiratory pathogens (EFES Study).
36. Biallelic variation in the choline and ethanolamine transporter FLVCR1underlies a severe developmental disorder spectrum
37. Brucellosis presenting with Guillain–Barré syndrome
38. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
39. Two Cases with Normocomplementhemic Urticarial Vasculitis: The Other Reasons Should Be Determined
40. Contribution of Plain X-Rays to the Diagnosis of Rhiozomelic Chondrodysplasia Punctata: Report of Two Cases
41. A Retrospective Evaluation of the Patients with Rhabdomyoma
42. Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function
43. The value of X-ray graphy in the diagnosis of the rhiozomelic chondrodysplasia punctata: a case report
44. A rare cause of basal ganglia calcification: Down syndrome
45. A child with L-2 hydroxyglutaric aciduria presenting with dilated cardiomyopathy: Coincidence or a new syndrome?
46. An infant with trisomy 15 mosaicism
47. Complete Gastric Outlet Obstruction Due to Corrosive Ingestion in an Infant: A Rare Cause of Vomiting
48. Evaluation of Patients with Metoclopramide-Induced Acute Dystonic Reaction
49. Acute bacterial meningitis in childhood: analysis of 20 cases
50. A syndrome extent to heart from the ear: Goldenhar's Syndrome
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