1. Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. Issue 6 (15th March 2009) Authors: Ben-Shachar, S; Lanpher, B; German, J R; Qasaymeh, M; Potocki, L; Nagamani, S C Sreenath; Franco, L M; Malphrus, A; Bottenfield, G W; Spence, J E; Amato, S; Rousseau, J A; Moghaddam, B; Skinner, C; Skinner, S A; Bernes, S; Armstrong, N; Shinawi, M; Stankiewicz, P; Patel, A Journal: Journal of medical genetics Issue: Volume 46:Issue 6(2009) Page Start: 382 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment. Issue 12 (6th July 2009) Authors: Sreenath Nagamani, S C; Zhang, F; Shchelochkov, O A; Bi, W; Ou, Z; Scaglia, F; Probst, F J; Shinawi, M; Eng, C; Hunter, J V; Sparagana, S; Lagoe, E; Fong, C-T; Pearson, M; Doco-Fenzy, M; Landais, E; Mozelle, M; Chinault, A C; Patel, A; Bacino, C A Journal: Journal of medical genetics Issue: Volume 46:Issue 12(2009) Page Start: 825 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. No live individual homozygous for a novel endoglin mutation was found in a consanguineous Arab family with hereditary haemorrhagic telangiectasia. Issue 11 (1st November 2004) Authors: Karabegovic, A; Shinawi, M; Cymerman, U; Letarte, M Journal: Journal of medical genetics Issue: Volume 41:Issue 11(2004) Page Start: e119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗