Ohcanbohtosat - Cécile Mignon‐Ravix

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Aiddostahte ozu
  1. 1
    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient

    Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient Dahkki Affef Abidi, Cécile Mignon‐Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  2. 2
    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

    Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability Dahkki Nancy Choucair, Cécile Mignon‐Ravix, Pierre Cacciagli, Joelle Abou Ghoch, Ali Fawaz, André Mégarbané, Laurent Villard, Éliane Chouery

    Almmustuhtton 2015
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  3. 3
    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

    Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype Dahkki Pierre Cacciagli, Marie-Reine Haddad, Cécile Mignon‐Ravix, Bilal El Waly, Anne Moncla, Chantal Missirian, B. Chabrol, Laurent Villard

    Almmustuhtton 2010
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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  4. 4
    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

    Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations Dahkki 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

    Almmustuhtton 2011
    Viečča ollesdeavstta Viečča ollesdeavstta
    Artigo
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