172 results on '"Nectoux J"'
Search Results
2. Association entre les taux plasmatiques de rituximab et le risque de rechute chez les patients atteints de vascularite associée aux ANCA en phase d’entretien
3. Somatic mosaicism for a FOXG1 mutation: diagnostic implication
4. Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes
5. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
6. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
7. LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families
8. Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy
9. Impairment of CDKL5 nuclear localisation as a cause of severe infantile encephalopathy
10. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome
11. Loss of sarcomeric scaffolding as a common baseline histopathologic lesion in titin-related myopathies
12. P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families
13. P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy
14. INFLAMMATORY MYOPATHIES
15. CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES
16. Nouvelles / Nachrichten / News
17. A national French consensus on gene lists for NGS-based diagnosis of myopathies
18. Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies
19. Caractérisation de la méthylation de l’ADN des corticosurrénalomes par digital-droplet-PCR
20. Performance of semiconductor sequencing platform for non-invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical setting.
21. Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T)
22. HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients
23. Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype
24. Détection de l’ADN tumoral circulant (ctDNA) dans les corticosurrénalomes
25. Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies
26. Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies
27. P.327 - Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies
28. P.330 - A national French consensus on gene lists for NGS-based diagnosis of myopathies
29. G.P.281
30. P.255 - Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype
31. P.9 - HyperCKemia and myalgia are the most common presentation of anoctamin-5 (ANO5) related myopathy in French patients
32. P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency
33. Somatic mosaicism for aFOXG1mutation: diagnostic implication
34. G.P.379 - Whole exome sequencing at the Institute of Myology in the context of the Myocapture project to identify novel genes of myopathies
35. G.P.339 - Highly variable skeletal muscle histo-immunocytochemical and ultrastructural features in titin-related myopathies
36. CDKL5 MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY
37. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome
38. The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
39. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy
40. G.P.281: Detection of homozygous and compound heterozygous deletions in TRIM32 in LGMD patients analyzed by a combined strategy of CGH-array and Massive Parallel Sequencing
41. International Incidence of Childhood Brain and Spinal Tumours
42. International variations in the incidence of childhood bone tumours
43. Temporal change in diagnostic criteria as a cause of the increase of malignant melanoma over time is unlikely
44. The Epidemiology of Prostatic Cancer: Geographical Distribution and time-trends
45. Team Piano Repertoire. Manual of Music for Multiple Players at one or more Pianos Frederic - Ming Chang Albert Faurot
46. The p.Val66Met polymorphism in the BDNFgene protects against early seizures in Rett syndromeSYMBOL
47. Temporal change in diagnostic criteria as a cause of the increase of malignant melanoma over time is unlikely
48. De Profundis
49. Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.
50. CDKL5MUTATIONS IN BOYS WITH SEVERE ENCEPHALOPATHY AND EARLY-ONSET INTRACTABLE EPILEPSY
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