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The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocolFrontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩
Article dans une revue
hal-03678712v1
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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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