1. Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation. Issue 9 (15th July 2008) Authors: Laugel, V; Dalloz, C; Tobias, E S; Tolmie, J L; Martin-Coignard, D; Drouin-Garraud, V; Valayannopoulos, V; Sarasin, A; Dollfus, H Journal: Journal of medical genetics Issue: Volume 45:Issue 9(2008) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Issue 2 (20th January 2006) Authors: Pasquier, L; Laugel, V; Lazaro, L; Dollfus, H; Journel, H; Edery, P; Goldenberg, A; Martin, D; Heron, D; Le Merrer, M; Rustin, P; Odent, S; Munnich, A; Sarasin, A; Cormier-Daire, V Journal: Archives of disease in childhood Issue: Volume 91:Issue 2(2006) Page Start: 178 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗