1. Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. Issue 8 (1st August 2005) Authors: McGillivray, G; Savarirayan, R; Cox, T C; Stojkoski, C; McNeil, R; Bankier, A; Bateman, J F; Roscioli, T; Gardner, R J M; Lamandé, S R Journal: Journal of medical genetics Issue: Volume 42:Issue 8(2005) Page Start: 656 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) ↗