Søgeresultater - 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 af 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

    Udgivet 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 af 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

    Udgivet 2014
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    Artigo
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