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. Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family. Issue 12 (December 1998) Authors: Kabbaj, K; Baala, L; Chhoul, H; Sefiani, A Journal: Journal of medical genetics Issue: Volume 35:Issue 12(1998) Page Start: 1043 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. Issue 10 (1st October 2002) Authors: Thauvin-Robinet, C; El Ghouzzi, V; Chemaitilly, W; Dagoneau, N; Boute, O; Viot, G; Mégarbané, A; Sefiani, A; Munnich, A; Le Merrer, M; Cormier-Daire, V Journal: Journal of medical genetics Issue: Volume 39:Issue 10(2002) Page Start: 714 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa. Issue 4 (April 1994) Authors: el Kerch, F; Sefiani, A; Azibi, K; Boutaleb, N; Yahyaoui, M; Bentahila, A; Vinet, M C; Leturcq, F; Bachner, L; Beckmann, J Journal: Journal of medical genetics Issue: Volume 31:Issue 4(1994) Page Start: 342 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗