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triés par
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Skraban-Deardorff Syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotypeEuropean Journal of Human Genetics, 2022, 30 (SUPPL 1), pp.256-256
Article dans une revue
hal-03798602v1
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Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humansNature Genetics, 2017, 49 (4), pp.527. ⟨10.1038/ng.3808⟩
Article dans une revue
hal-01550446v1
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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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