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diagnostic génétiqueSynonyme(s)genetic diagnosis |
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The impact of exome sequencing on the diagnostic yield of muscular dystrophies in consanguineous families
Dardas Z, Swedan S, Al-Sheikh Qassem A, et al.
European journal of medical genetics, 2020
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants
Forrester N, Rattihalli R, Horvath R, et al.
Journal of Neuromuscular Diseases, 2020, 7, 2, p 137
Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center
Gentile L, Russo M, Fabrizi GM, et al.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
Cortese A, Wilcox JE, Polke JM, et al.
Neurology, 2020, 94, 1
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 11
Enhanced Carrier Screening for Spinal Muscular Atrophy: Detection of Silent (SMN1: 2 + 0) Carriers Utilizing a Novel TaqMan Genotyping Method
Azad AK, Huang CK, Jin H, et al.
Laboratory medicine, 2019
Quand tous les chemins mènent à l’Afrique … : When all roads lead to Africa ...
Urtizberea JA, Alrohaif H, Gouda SA, et al.
Les Cahiers de Myologie, 2019, 35, HS2, p 15
Treating neonatal spinal muscular atrophy: A 21st century success story?
Tizzano EF
Early human development, 2019
Zoom sur... L'amyotrophie spinale proximale liée au gène SMN1
Myoinfo (AFM-Téléthon), Duguet C, Dupitier E, et al.
Zoom sur ..., Savoir & Comprendre, 2019, 130
One year of newborn screening for SMA - Results of a German pilot project
Vill K, Kolbel H, Schwartz O, et al.
Journal of Neuromuscular Diseases, 2019, 6, 4, 503
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre
Bugiardini E, Khan AM, Phadke R, et al.
Neuromuscular disorders : NMD, 2019
Glycogen Storage Disease Type V : Synonyms: Glycogenosis Type V, GSDV, McArdle Disease, Muscle Glycogen Phosphorylase Deficiency, Myophosphorylase Deficiency, PYGM Deficiency
Martin MA, Lucia A, Arenas J, et al.
GeneReviews® [Internet], 2019
Un diagnostic pour chacun : Accompagner une personne dans sa démarche diagnostique – Les aspects réglementaires
Collectif, Comité de pilotage du plan diagnostic AFM-Téléthon/Filnemus
Fiche technique, Savoir & Comprendre, 2018, p. 8
Un diagnostic pour chacun : Accompagner une personne dans sa démarche diagnostique - L'importance du diagnostic
Collectif, Comité de pilotage du plan diagnostic AFM-Téléthon/Filnemus
Fiche technique, Savoir & Comprendre, 2018, p. 8
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness
Owen D, Töpf A, Preethish-Kumar V, et al.
American Journal of Medical Genetics Part A, 2018
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)
Coote DJ, Davis MR, Cabrera M, et al.
European journal of human genetics : EJHG, 2018
Congenital titinopathy: Comprehensive characterisation and pathogenic insights
Oates EC, Jones KJ, Donkervoort S, et al.
Annals of neurology, 2018
Characterization of congenital myopathies at a Korean neuromuscular center
Park YE, Shin JH, Kim HS, et al.
Muscle & Nerve, 2018
Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
Vaeth S, Christensen R, Duno M, et al.
European journal of medical genetics, 2018
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gómez-Andrés D, et al.
Muscle & Nerve, 2018
The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization
Barp A, Malfatti E, Metay C, et al.
Revue neurologique, 2018
Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening
Herbert M, Cope H, Li JS, et al.
The Journal of pediatrics, 2018
