Showing 1 - 3 results of 3 for search 'Valérie Biancalana', query time: 0.02s Refine Results
  1. 1
    Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

    Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy by Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors, Jocelyn Laporte

    Published 2018-09-01
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  2. 2
    Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

    Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations by Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte

    Published 2024-07-01
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  3. 3
    Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era

    Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era by Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero

    Published 2024-12-01
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