Resultados de búsqueda - Valérie Faugère
- Mostrando 1 - 5 Resultados de 5
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Experience of targeted Usher exome sequencing as a clinical test por Thomas Besnard, Gema García‐García, David Baux, Christel Vaché, Valérie Faugère, Lise Larrieu, Susana Léonard, José M. Millán, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Publicado 2013Artigo -
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Molecular epidemiology of DFNB1 deafness in France por Anne‐Françoise Roux, Nathalie Pallares‐Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Gérard Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain, Mireille Claustres
Publicado 2004Artigo -
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Enrichment of LOVD-USHbases with 152<i>USH2A</i>Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots por David Baux, Catherine Blanchet, Christian Hamel, Isabelle Meunier, Lise Larrieu, Valérie Faugère, Christel Vaché, Pierangela Castorina, Bernard Puech, Dominique Bonneau, Sue Malcolm, Mireille Claustres, Anne‐Françoise Roux
Publicado 2014Artigo -
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Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients por David Baux, Christel Vaché, Christophe Blanchet, Marjolaine Willems, C. Baudoin, Mélodie Moclyn, Valérie Faugère, Renaud Touraine, Bertrand Isidor, Delphine Dupin‐Deguine, Mathilde Nizon, Marie Vincent, Sandra Mercier, C. Calais, Gema García‐García, Zohor A. Azher, Linda M. Lambert, Y. Perdomo-Trujillo, Fabienne Giuliano, Mireille Claustres, M. Kœnig, Michel Mondain, Anne‐Françoise Roux
Publicado 2017Artigo
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