Zoekresultaten - Cécile Mignon‐Ravix
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Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability door Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Éliane Chouery
Gepubliceerd in 2015Artigo -
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Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype door Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix, Bilal El Waly, Anne Moncla, Chantal Missirian, B. Chabrol, Laurent Villard
Gepubliceerd in 2010Artigo -
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations door Mathieu Milh, Nathalie Villeneuve, Mondher Chouchane, Anna Kaminśka, Cécile Laroche, Marie Anne Barthez, Cyril Gitiaux, Céline Bartoli, Ana Borges-Correia, Pierre Cacciagli, Cécile Mignon‐Ravix, Hélène Cuberos, B. Chabrol, Laurent Villard
Gepubliceerd in 2011Artigo