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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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The Rogdi knockout mouse is a model for Kohlschütter–Tönz syndrome by Alexandra Jimenez-Armijo, Supawich Morkmued, José Tomás Ahumada, Naji Kharouf, Yvan de Feraudy, Gergo Gogl, Fabrice Riet, Karen Niederreither, Jocelyn Laporte, Marie Christine Birling, Mohammed Selloum, Yann Herault, Magali Hernandez, Agnès Bloch-Zupan
Published 2024-01-01
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