245 results on '"Ben Zeev, B."'
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2. AN EXPANDING GENETIC SPECTRUM CAUSING HYPERPHENYLALANINEMIA AND CENTRAL MONOAMINE NEUROTRANSMITTER DEFICIENCY
3. Glatiramer acetate (GA, Copolymer-1) an hypothetical treatment option for Rett syndrome
4. The Neuropsychological profile of patients with 3-Methylglutaconic aciduria type III, Costeff syndrome
5. Costeff syndrome – Towards a definition of the natural course: 1110
6. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
7. Exome-sequencing identifies a mutation in the ASNS gene as a cause of progressive microcephaly and brain atrophy in Iranian Jews: C2–P1
8. Outcome of lamotrigine treatment in juvenile myoclonic epilepsy
9. THE MANY FACES OF GLUT1 DEFICIENCY - WE ALWAYS HAVE TO RETHINK ON OUR “OLD” PATIENTS: 006
10. Updating the profile of C-terminal MECP2 deletions in Rett syndrome
11. Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions
12. Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia
13. A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts
14. Jouberts Syndrome: extension of genetic linkage to chromosome 9q34.3
15. Neuronal Sodium-Channel [Alpha]1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus
16. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.
17. NG.O.12 - A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency
18. Long-term follow-up of gastrointestinal manifestations in Rett syndrome - a national center experience.
19. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
20. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
21. Unilateral Rhythmic Hand Tapping in Rett Syndrome: Is This Stereotypy?
22. P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency
23. Cerebral Venous Thrombosis in the Mediterranean Area in Children.
24. Malformations of cortical development with balloon cells: clinical and radiologic correlates.
25. A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts .
26. Inborn errors of metabolism: a cause of abnormal brain development.
27. Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures.
28. Intrathecal baclofen for severe torsion dystonia in a child.
29. Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia.
30. P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency.
31. 288 Inborn errors of metabolism as an aetiology of brain dysgenesis
32. PP05.11 – 3025: A new syndrome with postnatal microcephaly, mental retardation, spastic quadriplegia and pontocerebellar atrophy in Caucasus-Jewish families.
33. O23 – 1732 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency.
34. Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease?
35. P01.3 Abscence status on awakening – a new variant of childhood primary generalized epilepsy.
36. 1FC3.6 Progressive Microcephaly – A Novel Genetic disorder in Caucasus-Jewish Children.
37. ESP012 Normal MRI West syndrome cases: therapy type and diagnostic delay as prognostic factors.
38. Identification of regulatory mutations in the MECP2 gene associated with Rett Syndrome by means of quantitative RNA expression assays in peripheral blood.
39. Neonatal genital herpes simplex virus type 1 infection after Jewish ritual circumcision: modern medicine and religious tradition.
40. P0954 CACHEXIA AS THE ONLY PRESENTING SYMPTOM OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) WITHOUT GASTROINTESTINAL INVOLVEMENT.
41. Tracking-down novel mutations at the regulatory elements of MECP2 gene employing quantitative analysis of relative gene expression in patients peripheral blood: a pilot trial.
42. A genetic haplotype shared by Jewish patients suffering from vacuolationg megalencephalic leukodystrophy relates to an ancestral mutation in the MLC1 gene.
43. Rasmussen's encephalitis: a human epilepsy associated with multiple autoantibodies on both sides of the blood-brain barrier.
44. Behçet's disease in a child.
45. Neuronal Sodium-Channel alpha1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus.
46. Nutritional and gastrointestinal manifestations in Rett syndrome: long-term follow-up.
47. Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Infants, Children, and Adolescents with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.
48. Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
49. Autoimmune encephalitis in Israeli children - A retrospective nationwide study.
50. A Systematic Review and Clinical Presentation of Central Nervous System Complications of Severe Acute Respiratory Syndrome Coronavirus 2 in Hospitalized Pediatric Patients During the Coronavirus Disease 2019 Pandemic in Israel.
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