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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorderGenetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩
Article dans une revue
hal-03269307v1
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Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified casesJournal of Neurology, 2016, 263 (7), pp.1314 - 1322. ⟨10.1007/s00415-016-8112-5⟩
Article dans une revue
hal-01405178v1
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