1. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. Issue 3 (9th September 2005) Authors: Steffann, J; Frydman, N; Gigarel, N; Burlet, P; Ray, P F; Fanchin, R; Feyereisen, E; Kerbrat, V; Tachdjian, G; Bonnefont, J-P; Frydman, R; Munnich, A Journal: Journal of medical genetics Issue: Volume 43:Issue 3(2006) Page Start: 244 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗