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Author/Creator Chaix, Charlène

1. A new mutation in the C‐terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho‐hepato‐enteric syndrome in seven patients from two families. Issue 3 (31st January 2018)

Authors:
Fabre, Alexandre; Petit, Laetitia‐Marie; Hansen, Lars F.; Wewer, Anne V.; Esteve, Clothilde; Chaix, Charlène; Bourgeois, Patrice; Badens, Catherine; Paerregaard, Anders
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 3(2018)
Page Start:
727
Record Type:
Journal Article
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2. Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome. Issue 8 (28th July 2018)

Authors:
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
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 8(2018)
Page Start:
1760
Record Type:
Journal Article
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3. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. Issue 10 (6th August 2017)

Authors:
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
Journal:
Human mutation
Issue:
Volume 38:Issue 10(2017)
Page Start:
1432
Record Type:
Journal Article
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