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Author/Creator Girard, Manon

1. A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Issue 7 (13th December 2016)

Authors:
Grandemange, Sylvie; Sanchez, Elodie; Louis-Plence, Pascale; Tran Mau-Them, Frédéric; Bessis, Didier; Coubes, Christine; Frouin, Eric; Seyger, Marieke; Girard, Manon; Puechberty, Jacques; Costes, Valérie; Rodière, Michel; Carbasse, Aurélia; Jeziorski, Eric; Portales, Pierre; Sarrabay, Guillaume; ...
Journal:
Annals of the rheumatic diseases
Issue:
Volume 76:Issue 7(2017)
Page Start:
1191
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Identification of disrupted AUTS2 and EPHA6 genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder. (3rd September 2015)

Authors:
Schneider, Anouck; Puechberty, Jacques; Ng, Bee Ling; Coubes, Christine; Gatinois, Vincent; Tournaire, Magali; Girard, Manon; Dumont, Bruno; Bouret, Pauline; Magnetto, Julia; Baghdadli, Amaria; Pellestor, Franck; Geneviève, David
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 12(2015:Dec.)
Page Start:
3031
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗