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Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsMolecular Syndromology, 2014, 5 (2), pp.57--64. ⟨10.1159/000357359⟩
Journal articles
hal-01063973v1
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Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosisAmerican Journal of Hematology, 2016, 91 (12), pp.1202--1205. ⟨10.1002/ajh.24535⟩
Journal articles
hal-01427007v1
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