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Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy. [electronic resource] by
- Nguyen, Karine
- Walrafen, Pierre
- Bernard, Rafaëlle
- Attarian, Shahram
- Chaix, Charlène
- Vovan, Catherine
- Renard, Emilie
- Dufrane, Nathalie
- Pouget, Jean
- Vannier, Anne
- Bensimon, Aaron
- Lévy, Nicolas
Producer: 20120104
In:
Annals of neurology vol. 70
Availability: No items available.
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Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. [electronic resource] by
- Renard, Dimitri
- Taieb, Guillaume
- Garibaldi, Matteo
- Maues De Paula, Andre
- Bernard, Rafaelle
- Lagha, Nadira
- Cristofari, Gael
- Vovan, Catherine
- Chaix, Charlène
- Lévy, Nicolas
- Khau Van Kien, Philippe
- Sacconi, Sabrina
Producer: 20190823
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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6.
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. [electronic resource] by
- Nguyen, Karine
- Puppo, Francesca
- Roche, Stéphane
- Gaillard, Marie-Cécile
- Chaix, Charlène
- Lagarde, Arnaud
- Pierret, Marjorie
- Vovan, Catherine
- Olschwang, Sylviane
- Salort-Campana, Emmanuelle
- Attarian, Shahram
- Bartoli, Marc
- Bernard, Rafaëlle
- Magdinier, Frédérique
- Levy, Nicolas
Producer: 20180510
In:
Human mutation vol. 38
Availability: No items available.
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. [electronic resource] by
- Roche, Stéphane
- Dion, Camille
- Broucqsault, Natacha
- Laberthonnière, Camille
- Gaillard, Marie-Cécile
- Robin, Jérôme D
- Lagarde, Arnaud
- Puppo, Francesca
- Vovan, Catherine
- Chaix, Charlene
- Campana, Emmanuelle Salort
- Attarian, Shahram
- Bartoli, Marc
- Bernard, Rafaelle
- Nguyen, Karine
- Magdinier, Frédérique
Publication details: Neurology. Genetics Dec 2019
In:
Neurology. Genetics vol. 5
Availability: No items available.
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. [electronic resource] by
- Gaillard, Marie-Cécile
- Roche, Stéphane
- Dion, Camille
- Tasmadjian, Armand
- Bouget, Gwenaëlle
- Salort-Campana, Emmanuelle
- Vovan, Catherine
- Chaix, Charlene
- Broucqsault, Natacha
- Morere, Julia
- Puppo, Francesca
- Bartoli, Marc
- Levy, Nicolas
- Bernard, Rafaëlle
- Attarian, Shahram
- Nguyen, Karine
- Magdinier, Frédérique
Producer: 20141222
In:
Neurology vol. 83
Availability: No items available.
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9.
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. [electronic resource] by
- Gaillard, Marie-Cécile
- Puppo, Francesca
- Roche, Stéphane
- Dion, Camille
- Campana, Emmanuelle Salort
- Mariot, Virginie
- Chaix, Charlene
- Vovan, Catherine
- Mazaleyrat, Killian
- Tasmadjian, Armand
- Bernard, Rafaelle
- Dumonceaux, Julie
- Attarian, Shahram
- Lévy, Nicolas
- Nguyen, Karine
- Magdinier, Frédérique
- Bartoli, Marc
Producer: 20170502
In:
BMC medical genetics vol. 17
Availability: No items available.
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10.
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. [electronic resource] by
- Nguyen, Karine
- Broucqsault, Natacha
- Chaix, Charlene
- Roche, Stephane
- Robin, Jérôme D
- Vovan, Catherine
- Gerard, Laurene
- Mégarbané, André
- Urtizberea, Jon Andoni
- Bellance, Remi
- Barnérias, Christine
- David, Albert
- Eymard, Bruno
- Fradin, Melanie
- Manel, Véronique
- Sacconi, Sabrina
- Tiffreau, Vincent
- Zagnoli, Fabien
- Cuisset, Jean-Marie
- Salort-Campana, Emmanuelle
- Attarian, Shahram
- Bernard, Rafaëlle
- Lévy, Nicolas
- Magdinier, Frederique
Producer: 20200611
In:
Journal of medical genetics vol. 56
Availability: No items available.
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