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Author/Creator Chouchane, Mondher

1. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene. Issue 7 (22nd May 2013)

Authors:
Avila, Magali; Kirchhoff, Maria; Marle, Nathalie; Hove, Hanna D.; Chouchane, Mondher; Thauvin‐Robinet, Christel; Masurel, Alice; Mosca‐Boidron, Anne‐Laure; Callier, Patrick; Mugneret, Francine; Kjaergaard, Susanne; Faivre, Laurence
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 7(2013:Jul.)
Page Start:
1594
Record Type:
Journal Article
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2. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. (29th October 2015)

Authors:
Di Meglio, Chloé; Lesca, Gaetan; Villeneuve, Nathalie; Lacoste, Caroline; Abidi, Affef; Cacciagli, Pierre; Altuzarra, Cécilia; Roubertie, Agathe; Afenjar, Alexandra; Renaldo‐Robin, Florence; Isidor, Bertrand; Gautier, Agnes; Husson, Marie; Cances, Claude; Metreau, Julia; Laroche, Cécile; Chouchan...
Journal:
Epilepsia
Issue:
Volume 56:issue 12(2015:Dec.)
Page Start:
1931
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗