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Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity

Pascale Richard , Flavie Ader , Maguelonne Roux , Erwan Donal , Jean-Christophe Eicher , et al.
Clinical Genetics, 2019, 95 (3), pp.356-367. ⟨10.1111/cge.13484⟩
Journal articles hal-02055778v1
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Multiexon deletions account for 15% of Congenital Myasthenic Syndrome with RAPSN mutations after negative DNA Sequencing

Karen Gaudon , Isabelle Pénisson-Besnier , Brigitte Chabrol , Françoise Bouhour , Laurence Demay , et al.
Journal of Medical Genetics, 2010, 47 (12), pp.795. ⟨10.1136/jmg.2010.081034⟩
Journal articles istex hal-00574007v1
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ColVI-myopathies: where do we stand, where do we go?

Allamand V , Laura Briñas , Pascale Richard , Tanya Stojkovic , Susana Quijano-Roy , et al.
Skeletal Muscle, 2011, 1 (1), pp.30. ⟨10.1186/2044-5040-1-30⟩
Journal articles inserm-00630240v1