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169 results on '"PARRINI E"'

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1. Cortical malformations and COL4A1 mutation: Three new cases

2. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

4. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

5. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria

6. The spectrum of brain malformations and disruptions in twins

7. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

11. Polygenic burden in focal and generalized epilepsies

15. International consensus recommendations on the diagnostic work-up for malformations of cortical development

16. Developmental and epilepsy spectrum ofKCNB1encephalopathy with long-term outcome

17. International consensus recommendations on the diagnostic work-up for malformations of cortical development

19. A novel strategy combining array-CGH, whole-exome sequencing and in utero electroporation in rodents to identify causative genes for brain malformations

20. Cortical malformations and COL4A1 mutation: Three new cases

21. HCN1 mutation spectrum: From neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

22. Severe 5,10-methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia

23. ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

24. Increased sensitivity of the alpha-2 neuronal nicotinic receptor causes familial epilepsy with nocturnal wandering and ictal fear

25. Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

26. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

28. Measurement of Z-pair production in e(+)e(-) collisions and constraints on anomalous neutral gauge couplings

30. Precision electroweak measurements on the Z resonance

32. Single- and multi-photon production in e +e - collisions at vs up to 209 GeV: The ALEPH collaboration

34. Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

35. FLNA genomic rearrangements cause periventricular nodular heterotopia

36. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

38. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

40. FLNAgenomic rearrangements cause periventricular nodular heterotopia

41. Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletionSYMBOL

42. Multiplex ligation-dependent probe amplification detects DCXgene deletions in band heterotopia

43. Germline and mosaic mutations of FLN1in men with periventricular heterotopia

44. Pura syndrome: an emerging neurodevelopmental disorder

45. Increased sensitivity of the neuronal nicotinic receptor alpha-2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

46. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

47. Long-term follow-up of an individual with ITPR1-related disorder

48. Severe presentation and complex brain malformations in an individual carrying a CCND2 variant

49. The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS

50. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

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