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Stephane Roche
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophyHuman Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩
Article dans une revue
hal-01614514v1
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case reportBMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩
Article dans une revue
hal-01378417v1
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriersNeurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩
Article dans une revue
hal-01610019v1
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩
Article dans une revue
hal-00862092v1
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