1. 412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders. (October 2012) Authors: Makrythanasis, P; Nelis, M; Santoni, FA; Guipponi, M; Béna, F; Vanier, A; Duriaux-Sail, G; Gimelli, S; Stathaki, E; Falconnet, E; Temtamy, S; Megarbane, A; Aglan, M; Zaki, M; Fokstuen, S; Bottani, A; Masri, A; Psoni, S; Kitsiou, S; Frissyra, H Journal: Archives of disease in childhood Issue: Volume 97(2012)Supplement 2 Page Start: A121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Issue 4 (8th April 2009) Authors: Failly, M; Bartoloni, L; Letourneau, A; Munoz, A; Falconnet, E; Rossier, C; de Santi, M M; Santamaria, F; Sacco, O; DeLozier-Blanchet, C D; Lazor, R; Blouin, J-L Journal: Journal of medical genetics Issue: Volume 46:Issue 4(2009) Page Start: 281 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗