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Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneityClinical 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 SequencingJournal 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?Skeletal Muscle, 2011, 1 (1), pp.30. ⟨10.1186/2044-5040-1-30⟩
Journal articles
inserm-00630240v1
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