303 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. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
6. Costeff syndrome – Towards a definition of the natural course: 1110
7. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes
8. Exome-sequencing identifies a mutation in the ASNS gene as a cause of progressive microcephaly and brain atrophy in Iranian Jews: C2–P1
9. Outcome of lamotrigine treatment in juvenile myoclonic epilepsy
10. THE MANY FACES OF GLUT1 DEFICIENCY - WE ALWAYS HAVE TO RETHINK ON OUR “OLD” PATIENTS: 006
11. Updating the profile of C-terminal MECP2 deletions in Rett syndrome
12. Multicenter long-term follow-up of children with idiopathic West syndrome: ACTH versus vigabatrin - CME questions
13. Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia
14. A common ancestral haplotype in carrier chromosomes from different ethnic backgrounds in vacuolating megalencephalic leucoencephalopathy with subcortical cysts
15. Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin
16. A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency
17. The Utilization of an Insertable Cardiac Monitor in a Child With Pallid Breath-Holding Spells
18. Mutations in AIFM1 cause a potentially treatable X-linked childhood cerebellar ataxia
19. Microcephaly, intractable seizures and developmental delay caused by biallelic variants inTBCD: further delineation of a new chaperone-mediated tubulinopathy
20. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
21. Epilepsy in Rett syndrome-lessons from the Rett networked database
22. Jouberts Syndrome: extension of genetic linkage to chromosome 9q34.3
23. Neuronal Sodium-Channel [Alpha]1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus
24. Creatine transporter deficiency: Novel mutations and functional studies
25. IDENTIFICATION OF KIF21A MUTATIONS AS A RARE CAUSE OF CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES TYPE 3 (CFEOM3)
26. NG.O.12 - A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency
27. SLC1A4mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum
28. PP05.11 – 3025: A new syndrome with postnatal microcephaly, mental retardation, spastic quadriplegia and pontocerebellar atrophy in Caucasus-Jewish families
29. InterRett, a model for international data collection in a rare genetic disorder
30. NOVEL MUTATIONS IN CDKL5 GENE, PREDICTED EFFECTS AND ASSOCIATED PHENOTYPES
31. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement
32. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
33. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
34. Long-term follow-up of gastrointestinal manifestations in Rett syndrome - a national center experience.
35. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
36. P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency
37. O23 – 1732 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency
38. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
39. Unilateral Rhythmic Hand Tapping in Rett Syndrome
40. CEREBRAL VENOUS THROMBOSIS IN THE MEDITERRANEAN AREA IN CHILDREN
41. P01.3 Abscence status on awakening – a new variant of childhood primary generalized epilepsy
42. 1FC3.6 Progressive Microcephaly – A Novel Genetic disorder in Caucasus-Jewish Children
43. Updating the profile of C-terminal MECP2 deletions in Rett syndrome
44. Investigating genotype-phenotype relationships in Rett syndrome using an international data set
45. ESP012 Normal MRI West syndrome cases: therapy type and diagnostic delay as prognostic factors
46. NOVEL SHORT-CHAIN ACYL-COA DEHYDROGENASE GENE MUTATION (319 C>T) PRESENTS WITH HYPOTONIA, DEVELOPMENTAL DELAY, MULTICORE MYOPATHY AND CLINICAL HETEROGENEITY AND IS CANDIDATE FOUNDER MUTATION IN ASHKENAZI JEWS
47. AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (AADC) –3 UNUSUAL CASE REPORTS
48. STROKE-LIKE EPISODES IN RARE NEUROCUTANEOUS SYNDROMES
49. P0954 CACHEXIA AS THE ONLY PRESENTING SYMPTOM OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) WITHOUT GASTROINTESTINAL INVOLVEMENT
50. Malformations of cortical development with balloon cells
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