Rezultaty - Agnès Gautier

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  1. 1
    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability

    Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability od Sarah Vergult, Annelies Dheedene, Alfred Meurs, Fran Faes, Bertrand Isidor, Sandra Janssens, Agnès Gautier, Cédric Le Caignec, Björn Menten

    Wydane 2014
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  2. 2
    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

    Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome od Christel Depienne, Oriane Trouillard, Isabelle Gourfinkel‐An, Cécile Saint‐Martin, Delphine Bouteiller, Denis Graber, Marie‐Anne Barthez‐Carpentier, Agnès Gautier, Nathalie Villeneuve, Charlotte Dravet, Marie-Odile Livet, Clotilde Rivier-Ringenbach, Claude Adam, Sabrina Dupont, Stéphanie Baulac, Delphine Héron, Rima Nabbout, Eric Leguern

    Wydane 2010
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  3. 3
    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

    Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females od Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, B Benyahia, Chloé Quēlin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi‐Buisson, Isabelle Gourfinkel‐An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern

    Wydane 2009
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  4. 4
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females od Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel‐An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman‐Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, A. Dusser, Marie Bru, Brigitte Gilbert‐Dussardier, Agathe Roubertie, Anna Kaminśka, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaëtan Lesca, Alexis Arzimanoglou, Eric Leguern

    Wydane 2010
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  5. 5
    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases

    Epileptic patients with de novo <i><scp>STXBP</scp>1</i> mutations: Key clinical features based on 24 cases od Chloé Di Meglio, Gaëtan Lesca, Nathalie Villeneuve, Caroline Lacoste, Affef Abidi, Pierre Cacciagli, Cécilia Altuzarra, Agathe Roubertie, Alexandra Afenjar, Florence Renaldo‐Robin, Bertrand Isidor, Agnès Gautier, Marie Husson, Claude Cancès, Julia Métreau, Cécile Laroche, Mondher Chouchane, Dorothée Ville, Stéphanie Marignier, Christelle Rougeot, Marine Lebrun, Anne de Saint Martin, Alexandra Perez, Audrey Riquet, Catherine Badens, Chantal Missirian, Nicole Philip, B. Chabrol, Laurent Villard, Mathieu Milh

    Wydane 2015
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