1. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia. Issue 6 (1st June 2004) Authors: Sabherwal, N; Blaschke, R J; Marchini, A; Heine-Suner, D; Rosell, J; Ferragut, J; Blum, W F; Rappold, G Journal: Journal of medical genetics Issue: Volume 41:Issue 6(2004) Page Start: e83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. Issue 9 (September 1996) Authors: Martorell, L; Illa, I; Rosell, J; Benitez, J; Sedano, M J; Baiget, M Journal: Journal of medical genetics Issue: Volume 33:Issue 9(1996) Page Start: 783 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular, cytogenetic, and clinical characterisation of six XX males including one prenatal diagnosis. Issue 9 (September 1998) Authors: Margarit, E; Soler, A; Carrió, A; Oliva, R; Costa, D; Vendrell, T; Rosell, J; Ballesta, F Journal: Journal of medical genetics Issue: Volume 35:Issue 9(1998) Page Start: 727 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. Issue 7 (1st July 2003) Authors: Bernal, S; Calaf, M; Garcia-Hoyos, M; Garcia-Sandoval, B; Rosell, J; Adan, A; Ayuso, C; Baiget, M Journal: Journal of medical genetics Issue: Volume 40:Issue 7(2003) Page Start: e89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. Issue 9 (24th June 2010) Authors: Bernal, S; Alías, L; Barceló, M J; Also-Rallo, E; Martínez-Hernández, R; Gámez, J; Guillén-Navarro, E; Rosell, J; Hernando, I; Rodríguez-Alvarez, F J; Borrego, S; Millán, J M; Hernández-Chico, C; Baiget, M; Fuentes-Prior, P; Tizzano, E F Journal: Journal of medical genetics Issue: Volume 47:Issue 9(2010) Page Start: 640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗