檢索結果 - O. Vérier‐Mine

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    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness

    Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness 由 Véronique Pingault, Virginie Bodereau, Viviane Baral, Séverine Marcos, Yuli Watanabe, Asma Chaoui, Corinne Fouveaut, Chrystel Leroy, O. Vérier‐Mine, Christine Francannet, Delphine Dupin‐Deguine, F. Archambeaud, François-Joseph Kurtz, Jacques Young, Jérôme Bertherat, Sandrine Marlin, Michel Goossens, Jean‐Pierre Hardelin, Catherine Dodé, Nadège Bondurand

    出版 2013
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    The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients

    The Prevalence of<i>CHD7</i>Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients 由 Séverine Marcos, Julie Sarfati, Chrystel Leroy, Corinne Fouveaut, Philippe Parent, Chantal Metz, Sławomir Wołczyński, Marion Gérard, Éric Bieth, F Kurtz, O. Vérier‐Mine, Laurence Perrin, F. Archambeaud, Sylvie Cabrol, Patrice Rodien, Hanne Hove, Trine Prescott, Didier Lacombe, Sophie Christin-Maître, Philippe Touraine, S. Hiéronimus, Didier Dewailly, Jacques Young, Michel Pugeat, Jean‐Pierre Hardelin, Catherine Dodé

    出版 2014
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    Artigo
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