Resultados da pesquisa - M. C. Vincent

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  1. 1
    Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia

    Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia Por N. Chassaing, Sylvie Bourthoumieu, Mireille Cossée, Patrick Calvas, M.-C. Vincent

    Publicado em 2006
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  2. 2
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease Por Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Publicado em 2010
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  3. 3
    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome

    Mutation update for the<i>CSB</i>/<i>ERCC6</i>and<i>CSA</i>/<i>ERCC8</i>genes involved in Cockayne syndrome Por Vincent Laugel, C Dalloz, M. Durand, Florence Sauvanaud, Ulrik Kristensen, M.-C. Vincent, Laurent Pasquier, S. Odent, Valérie Cormier‐Daire, Blanca Gener, Edward S. Tobias, John Tolmie, Dominique Martin–Coignard, Valérie Drouin‐Garraud, D. Héron, Hubert Journel, Emmanuel Raffo, Jacqueline Vigneron, Stanislas Lyonnet, Victoria Murday, D. Gubser-Mercati, Benoît Funalot, L A Brueton, Jaime Sánchez del Pozo, Esteban Muñoz, AR Gennery, Mustafa A. Salih, Mehrdad Noruzinia, Katrina Prescott, Lina Ramos, Zornitza Stark, Karen Fieggen, B. Chabrol, P. Sardá, Patrick Edery, Agnès Bloch‐Zupan, Heather Fawcett, D Pham, J.M. Egly, Alan R. Lehmann, Alain Sarasin, Hélène Dollfus

    Publicado em 2009
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