1. Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22. Issue 3 (March 1997) Authors: des Portes, V; Pinard, J M; Smadja, D; Motte, J; Boespflüg-Tanguy, O; Moutard, M L; Desguerre, I; Billuart, P; Carrie, A; Bienvenu, T; Vinet, M C; Bachner, L; Beldjord, C; Dulac, O; Kahn, A; Ponsot, G; Chelly, J Journal: Journal of medical genetics Issue: Volume 34:Issue 3(1997) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Follow up of precocious pseudopuberty associated with isolated ovarian follicular cysts. Issue 1 (1st July 1999) Authors: Rodriguez-Macias, K A; Thibaud, E; Houang, M; Duflos, C; Beldjord, C; Rappaport, R Journal: Archives of disease in childhood Issue: Volume 81:Issue 1(1999) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. Issue 9 (September 1993) Authors: Bienvenu, T; Beldjord, C; Adjiman, M; Kaplan, J C Journal: Journal of medical genetics Issue: Volume 30:Issue 9(1993) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). Issue 6 (June 1997) Authors: Carrié, A; Piccolo, F; Leturcq, F; de Toma, C; Azibi, K; Beldjord, C; Vallat, J M; Merlini, L; Voit, T; Sewry, C; Urtizberea, J A; Romero, N; Tomé, F M; Fardeau, M; Sunada, Y; Campbell, K P; Kaplan, J C; Jeanpierre, M Journal: Journal of medical genetics Issue: Volume 34:Issue 6(1997) Page Start: 470 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation. Issue 5 (1st May 2003) Authors: Bienvenu, T; Poirier, K; Van Esch, H; Hamel, B; Moraine, C; Fryns, J P; Ropers, H H; Beldjord, C; Yntema, H G; Chelly, J Journal: Journal of medical genetics Issue: Volume 40:Issue 5(2003) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Severe cystic fibrosis in a child homozygous for the G542 nonsense mutation in the CFTR gene. Issue 7 (July 1993) Authors: Bienvenu, T; Beldjord, C; Fonknechten, N; Kaplan, J C; Lenoir, G Journal: Journal of medical genetics Issue: Volume 30:Issue 7(1993) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Severe cystic fibrosis phenotype in a delta F508/3272-26A-->G compound heterozygote. Issue 11 (November 1995) Authors: Bienvenu, T; Beldjord, C; Kaplan, J C; Hubert, D; Dusser, D Journal: Journal of medical genetics Issue: Volume 32:Issue 11(1995) Page Start: 919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗