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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2016
[Genetics and molecular aspects of dystrophinopathies]F Leturcq, S Tuffery-GiraudAnnales De Biologie Clinique|August 5, 1999
[Genotypic diagnosis of Duchenne and Becker muscular dystrophies]S Tuffery-Giraud, S Chambert, J Demaille, et al.Human Mutation|October 26, 1999
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defectsS Tuffery-Giraud, S Chambert, J Demaille, et al.Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|November 14, 2003
[Movement disorders in childhood: classification and genetic update]A Roubertie, F Rivier, S Tuffery-Giraud, et al.Investigative Ophthalmology & Visual Science|May 8, 2000
BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophiesC F Schmitt-Bernard, C Guittard, B Arnaud, et al.Journal of Medical Genetics|August 10, 2010
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinC Rouzier, S Le Guédard-Méreuze, K Fragaki, et al.Pathologie-Biologie|December 4, 2009
[Genetic mutation databases: stakes and perspectives for orphan genetic diseases]V Humbertclaude, S Tuffery-Giraud, C Bareil, et al.Neurogenetics|March 7, 2008
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?M Y Frédéric, F Clot, L Cif, et al.Revue Neurologique|August 20, 2013
[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]V Humbertclaude, D Hamroun, M-C Picot, et al.Pageof 1