1. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. Issue 4 (9th September 2005) Authors: Jongmans, M C J; Admiraal, R J; van der Donk, K P; Vissers, L E L M; Baas, A F; Kapusta, L; van Hagen, J M; Donnai, D; de Ravel, T J; Veltman, J A; Geurts van Kessel, A; De Vries, B B A; Brunner, H G; Hoefsloot, L H; van Ravenswaaij, C M A Journal: Journal of medical genetics Issue: Volume 43:Issue 4(2006) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. Issue 5 (4th March 2011) Authors: Bergman, J E H; Janssen, N; Hoefsloot, L H; Jongmans, M C J; Hofstra, R M W; van Ravenswaaij-Arts, C M A Journal: Journal of medical genetics Issue: Volume 48:Issue 5(2011) Page Start: 334 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗