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Mireille Claustres

Showing results (131-140 of 149) with videos related to

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European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.
European Heart Journal|August 17, 2010
Cardiovascular manifestations in men and women carrying a FBN1 mutationDelphine Détaint, Laurence Faivre, Gwenaelle Collod-Beroud, et al.
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.
Human Mutation|May 23, 2009
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like diseaseAbul Kalam Azad, Robert Rauh, François Vermeulen, et al.
Pediatrics|January 2, 2009
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutationsLaurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Pageof 15

Showing results (131-140 of 149) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Human Mutation|June 13, 2017
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variantsMireille Claustres, Corinne Thèze, Marie des Georges, et al.
European Heart Journal|August 17, 2010
Cardiovascular manifestations in men and women carrying a FBN1 mutationDelphine Détaint, Laurence Faivre, Gwenaelle Collod-Beroud, et al.
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
Circulation|December 10, 2009
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disordersDavid Attias, Chantal Stheneur, Carine Roy, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|December 6, 2014
Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variantsJanneke C van den Bergen, Monika Hiller, Stefan Böhringer, et al.
American Journal of Human Genetics|December 20, 2003
Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignJoshua D Groman, Timothy W Hefferon, Teresa Casals, et al.
Human Mutation|May 23, 2009
Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like diseaseAbul Kalam Azad, Robert Rauh, François Vermeulen, et al.
Pediatrics|January 2, 2009
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutationsLaurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, et al.
Ophthalmic Epidemiology|January 29, 2013
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet, Annie Lacroux, Marie-Odile Surget, et al.
Pageof 15