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authFullName_s : M.-P. Beaumont-Epinette

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

C. Dubourg , Frédérique Bonnet-Brilhault , A. Toutain , C. Mignot , A. Jacquette et al.
Molecular Syndromology, 2014, 5 (2), pp.57--64. ⟨10.1159/000357359⟩
Journal articles hal-01063973v1

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis

H. Hamdi-Rozé , M.-P. Beaumont-Epinette , Z. Ben Ali , C. Le Lan , V. Loustaud-Ratti et al.
American Journal of Hematology, 2016, 91 (12), pp.1202--1205. ⟨10.1002/ajh.24535⟩
Journal articles hal-01427007v1