1. Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations. Issue 4 (26th October 2007) Authors: Witsch-Baumgartner, M; Schwentner, I; Gruber, M; Benlian, P; Bertranpetit, J; Bieth, E; Chevy, F; Clusellas, N; Estivill, X; Gasparini, G; Giros, M; Kelley, R I; Krajewska-Walasek, M; Menzel, J; Miettinen, T; Ogorelkova, M; Rossi, M; Scala, I; Schinzel, A; Schmidt, K Journal: Journal of medical genetics Issue: Volume 45:Issue 4(2008) Page Start: 200 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study. Issue 1 (5th January 2006) Authors: Thauvin-Robinet, C; Cossée, M; Cormier-Daire, V; Van Maldergem, L; Toutain, A; Alembik, Y; Bieth, E; Layet, V; Parent, P; David, A; Goldenberg, A; Mortier, G; Héron, D; Sagot, P; Bouvier, A M; Huet, F; Cusin, V; Donzel, A; Devys, D; Teyssier, J R Journal: Journal of medical genetics Issue: Volume 43:Issue 1(2006) Page Start: 54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. Issue 12 (29th July 2009) Authors: Willems, M; Geneviève, D; Borck, G; Baumann, C; Baujat, G; Bieth, E; Edery, P; Farra, C; Gerard, M; Héron, D; Leheup, B; Le Merrer, M; Lyonnet, S; Martin-Coignard, D; Mathieu, M; Thauvin-Robinet, C; Verloes, A; Colleaux, L; Munnich, A; Cormier-Daire, V Journal: Journal of medical genetics Issue: Volume 47:Issue 12(2010) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndrome. Issue 4 (1st April 2002) Authors: De Mas, P; Chassaing, N; Chaix, Y; Vincent, M-C; Julia, S; Bourrouillou, G; Calvas, P; Bieth, E Journal: Journal of medical genetics Issue: Volume 39:Issue 4(2002) Page Start: e17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients. Issue 11 (1st November 2002) Authors: Reboul, M P; Bieth, E; Fayon, M; Biteau, N; Barbier, R; Dromer, C; Desgeorges, M; Claustres, M; Bremont, F; Lacombe, D; Iron, A Journal: Journal of medical genetics Issue: Volume 39:Issue 11(2002) Page Start: e73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. Issue 11 (29th June 2009) Authors: Thauvin-Robinet, C; Munck, A; Huet, F; Génin, E; Bellis, G; Gautier, E; Audrézet, M-P; Férec, C; Lalau, G; Georges, M Des; Claustres, M; Bienvenu, T; Gérard, B; Boisseau, P; Cabet-Bey, F; Feldmann, D; Clavel, C; Bieth, E; Iron, A; Simon-Bouy, B Journal: Journal of medical genetics Issue: Volume 46:Issue 11(2009) Page Start: 752 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗