- 2
- 1
- 1
- 1
Stephane Roche
5
Documents
Publications
- 5
- 4
- 4
- 3
- 3
- 2
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 5
- 5
- 5
- 5
- 5
- 5
- 4
- 4
- 4
- 4
- 4
- 3
- 2
- 2
- 2
- 2
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 4
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
- 1
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophyHuman Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩
Article dans une revue
hal-01662672v1
|