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. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study. (26th April 2013) Authors: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodríguez‐Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; Cueto‐González, AM; Cuscó, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R Journal: Clinical genetics Issue: Volume 84:Number 6(2013:Dec.) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗