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1. Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

4. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

5. Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

8. Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in becker muscular dystrophy

9. Treatabolome database: towards enhancing Rare Diseases’ treatment visibility

10. International retrospective natural history study of LMNA-related congenital muscular dystrophy

12. Treatabolome: a rare diseases treatment awareness project

13. LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?

16. LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

17. Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

18. Correlation between dystrophin espression and clinical phenotype using high-throughput digital immunoanalysis in Duchenne and Becker muscular dystrophy patients

19. Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

20. BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

22. 5164New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

23. P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

24. P.252LGMD, exercise intolerance, ptosis, ophthalmoplegia and dermatologic features: the phenotypic pleiotropy of plectinopathies in 8 French families

25. P.335Phenotypic and genomic characterization as predictors of DMD 45 to 55 multi-exon skipping therapy

26. P.245Morphological, ultrastructural and western blot analysis in adult and child with PLEC1-related myopathy

29. LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

31. Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

33. Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

34. First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study

35. Non-ambulant duchenne patients theoretically treatable by exon 53 skipping have severe phenotype

36. Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

37. Genetics of Laminopathies

43. Expression clinique des porteuses symptomatiques de mutations du g&egrave ; ne EMD. A propos de 4 cas

44. G.P.142

45. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands

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