1. 'Pure' partial trisomy 2q in a male owing to malsegregation of a maternal translocation t(X;2)(p22.3;q32.1). Issue 1 (February 1985) Authors: Plessis, G; Couturier, J; Turleau, C; Despoisses, S; Delavenne, J Journal: Journal of medical genetics Issue: Volume 22:Issue 1(1985) Page Start: 70 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. No evidence of genetic heterogeneity in dominant optic atrophy. Issue 12 (December 1995) Authors: Bonneau, D; Souied, E; Gerber, S; Rozet, J M; D'Haens, E; Journel, H; Plessis, G; Weissenbach, J; Munnich, A; Kaplan, J Journal: Journal of medical genetics Issue: Volume 32:Issue 12(1995) Page Start: 951 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Severe manifestations in carrier females in X linked retinitis pigmentosa. Issue 10 (October 1997) Authors: Souied, E; Segues, B; Ghazi, I; Rozet, J M; Chatelin, S; Gerber, S; Perrault, I; Michel-Awad, A; Briard, M L; Plessis, G; Dufier, J L; Munnich, A; Kaplan, J Journal: Journal of medical genetics Issue: Volume 34:Issue 10(1997) Page Start: 793 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. (18th March 2013) Authors: Callier, P; Aral, B; Hanna, N; Lambert, S; Dindy, H; Ragon, C; Payet, M; Collod‐Beroud, G; Carmignac, V; Delrue, MA; Goizet, C; Philip, N; Busa, T; Dulac, Y; Missotte, I; Sznajer, Y; Toutain, A; Francannet, C; Megarbane, A; Julia, S Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗