1. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. Issue 3 (9th November 2007) Authors: Rosas-Vargas, H; Bahi-Buisson, N; Philippe, C; Nectoux, J; Girard, B; N'Guyen Morel, M A; Gitiaux, C; Lazaro, L; Odent, S; Jonveaux, P; Chelly, J; Bienvenu, T Journal: Journal of medical genetics Issue: Volume 45:Issue 3(2008) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech. Issue 6 (3rd June 2010) Authors: Bonnet, C; Andrieux, J; Béri-Dexheimer, M; Leheup, B; Boute, O; Manouvrier, S; Delobel, B; Copin, H; Receveur, A; Mathieu, M; Thiriez, G; Le Caignec, C; David, A; de Blois, M C; Malan, V; Philippe, A; Cormier-Daire, V; Colleaux, L; Flori, E; Dollfus, H Journal: Journal of medical genetics Issue: Volume 47:Issue 6(2010) Page Start: 377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome. Issue 1 (2nd July 2009) Authors: Mencarelli, M A; Spanhol-Rosseto, A; Artuso, R; Rondinella, D; De Filippis, R; Bahi-Buisson, N; Nectoux, J; Rubinsztajn, R; Bienvenu, T; Moncla, A; Chabrol, B; Villard, L; Krumina, Z; Armstrong, J; Roche, A; Pineda, M; Gak, E; Mari, F; Ariani, F; Renieri, A Journal: Journal of medical genetics Issue: Volume 47:Issue 1(2010) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. Issue 10 (26th August 2008) Authors: Bahi-Buisson, N; Poirier, K; Boddaert, N; Saillour, Y; Castelnau, L; Philip, N; Buyse, G; Villard, L; Joriot, S; Marret, S; Bourgeois, M; Van Esch, H; Lagae, L; Amiel, J; Hertz-Pannier, L; Roubertie, A; Rivier, F; Pinard, J M; Beldjord, C; Chelly, J Journal: Journal of medical genetics Issue: Volume 45:Issue 10(2008) Page Start: 647 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Updating the profile of C-terminal MECP2 deletions in Rett syndrome. Issue 4 (12th November 2009) Authors: Bebbington, A; Percy, A; Christodoulou, J; Ravine, D; Ho, G; Jacoby, P; Anderson, A; Pineda, M; Ben Zeev, B; Bahi-Buisson, N; Smeets, E; Leonard, H Journal: Journal of medical genetics Issue: Volume 47:Issue 4(2010) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗