1. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. Issue 1 (16th January 2004) Authors: Bénit, P; Slama, A; Cartault, F; Giurgea, I; Chretien, D; Lebon, S; Marsac, C; Munnich, A; Rötig, A; Rustin, P Journal: Journal of medical genetics Issue: Volume 41:Issue 1(2004) Page Start: 14 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Issue 7 (14th April 2009) Authors: Pasmant, E; Sabbagh, A; Hanna, N; Masliah-Planchon, J; Jolly, E; Goussard, P; Ballerini, P; Cartault, F; Barbarot, S; Landman-Parker, J; Soufir, N; Parfait, B; Vidaud, M; Wolkenstein, P; Vidaud, D; France, R N F Journal: Journal of medical genetics Issue: Volume 46:Issue 7(2009) Page Start: 425 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗