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Haematologica|December 17, 2009
Complications and treatment of patients with β-thalassemia in France: results of the National RegistryIsabelle Thuret, Corinne Pondarré, Anderson Loundou, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patientsJulien Masliah-Planchon, Dominique Lévy, Delphine Héron, et al.
Haematologica|December 7, 2014
A genetic score for the prediction of beta-thalassemia severityFabrice Danjou, Marcella Francavilla, Franco Anni, et al.
American Journal of Hematology|May 29, 2015
Incidence of ATRX mutations in myelodysplastic syndromes, the value of microcytosisCharles Herbaux, Nicolas Duployez, Catherine Badens, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation updateClaire Laure Navarro, Vera Esteves-Vieira, Sébastien Courrier, et al.
Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
British Journal of Haematology|January 16, 2016
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotesZhihua Jiang, Hong-Yuan Luo, Shengwen Huang, et al.
Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Haematologica|January 19, 2019
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patientsVéronique Picard, Corinne Guitton, Isabelle Thuret, et al.
Epilepsia|October 31, 2015
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 casesChloé Di Meglio, Gaetan Lesca, Nathalie Villeneuve, et al.
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