1. Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. (5th April 2013) Authors: M'hamdi, O.; Redin, C.; Stoetzel, C.; Ouertani, I.; Chaabouni, M.; Maazoul, F.; M'rad, R.; Mandel, J.L.; Dollfus, H.; Muller, J.; Chaabouni, H. Journal: Clinical genetics Issue: Volume 85:Number 2(2014:Feb.) Page Start: 172 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations. (12th June 2013) Authors: Schaefer, E.; Lauer, J.; Durand, M.; Pelletier, V.; Obringer, C.; Claussmann, A.; Braun, J.‐J.; Redin, C.; Mathis, C.; Muller, J.; Schmidt‐Mutter, C.; Flori, E.; Marion, V.; Stoetzel, C.; Dollfus, H. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗