1. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Issue 4 (April 1995) Authors: Tranebjaerg, L; Schwartz, C; Eriksen, H; Andreasson, S; Ponjavic, V; Dahl, A; Stevenson, R E; May, M; Arena, F; Barker, D Journal: Journal of medical genetics Issue: Volume 32:Issue 4(1995) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. Issue 1 (1st January 2003) Authors: Longo, I; Frints, S G M; Fryns, J-P; Meloni, I; Pescucci, C; Ariani, F; Borghgraef, M; Raynaud, M; Marynen, P; Schwartz, C; Renieri, A; Froyen, G Journal: Journal of medical genetics Issue: Volume 40:Issue 1(2003) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation. Issue 2 (1st February 2002) Authors: Lossi, A-M; Laugier-Anfossi, F; Depetris, D; Gecz, J; Gedeon, A; Kooy, F; Schwartz, C; Mattei, M-G; Croquette, M-F; Villard, L Journal: Journal of medical genetics Issue: Volume 39:Issue 2(2002) Page Start: 113 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Communication on complementary feeding: attitudes of parents versus pediatricians in France. (30th September 2020) Authors: De Rosso, S; Nicklaus, S; Ducrot, P; Schwartz, C Journal: European journal of public health Issue: Volume 30:Number 5(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1. Issue 6 (June 1998) Authors: Rasmussen, S A; Colman, S D; Ho, V T; Abernathy, C R; Arn, P H; Weiss, L; Schwartz, C; Saul, R A; Wallace, M R Journal: Journal of medical genetics Issue: Volume 35:Issue 6(1998) Page Start: 468 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. Issue 10 (October 1992) Authors: Tarleton, J; Wong, S; Heitz, D; Schwartz, C Journal: Journal of medical genetics Issue: Volume 29:Issue 10(1992) Page Start: 726 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family. Issue 12 (December 1992) Authors: Tarleton, J; Wong, S; Schwartz, C Journal: Journal of medical genetics Issue: Volume 29:Issue 12(1992) Page Start: 919 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype prediction in the fragile X syndrome. Issue 12 (December 1991) Authors: Hirst, M C; Nakahori, Y; Knight, S J; Schwartz, C; Thibodeau, S N; Roche, A; Flint, T J; Connor, J M; Fryns, J P; Davies, K E Journal: Journal of medical genetics Issue: Volume 28:Issue 12(1991) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Localisation of two candidate genes for mental retardation using a YAC physical map of the Xq21.1-21.2 subbands. Issue 5 (May 1996) Authors: Colleaux, L; May, M; Belougne, J; Lepaslier, D; Schwartz, C; Fontes, M Journal: Journal of medical genetics Issue: Volume 33:Issue 5(1996) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. OS02.7.A The role of epilepsy in elderly patients with Glioblastoma: An Austrian multicenter analysis. (5th September 2022) Authors: Demetz, M; Hecker, C; Krigers, A; Kerschbaumer, J; Pöppe, J; Geiger, P; Spinello, A; Griessenauer, C J; Thomé, C; Schwartz, C; Freyschlag, C F Journal: Neuro-oncology Issue: Volume 24(2022)Supplement 2 Page Start: ii11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗