1. De novo deletions in spinal muscular atrophy: implications for genetic counselling. Issue 1 (January 1997) Authors: Raclin, V; Veber, P S; Bürglen, L; Munnich, A; Melki, J Journal: Journal of medical genetics Issue: Volume 34:Issue 1(1997) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of three ADA2 deficiency families with novel CECR1 mutations. Issue 1 (December 2015) Authors: Sarrabay, G; Insalaco, A; Uettwiller, F; Tieulié, N; Quartier-dit-maire, P; Melki, J; Touitou, I Journal: Pediatric rheumatology online journal Issue: Volume 13:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease. Issue 4 (April 1996) Authors: Burlet, P; Bürglen, L; Clermont, O; Lefebvre, S; Viollet, L; Munnich, A; Melki, J Journal: Journal of medical genetics Issue: Volume 33:Issue 4(1996) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. Issue 3 (March 1992) Authors: Melki, J; Abdelhak, S; Burlet, P; Raclin, V; Kaplan, J; Spiegel, R; Gilgenkrantz, S; Philip, N; Chauvet, M L; Dumez, Y Journal: Journal of medical genetics Issue: Volume 29:Issue 3(1992) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease. Issue 6 (June 1997) Authors: Hanash, A; Leguern, E; Birouk, N; Clermont, O; Pouget, J; Bouche, P; Munnich, A; Brice, A; Melki, J Journal: Journal of medical genetics Issue: Volume 34:Issue 6(1997) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗