1. Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation. Issue 10 (1st October 2002) Authors: Roberts, E; Hampshire, D J; Pattison, L; Springell, K; Jafri, H; Corry, P; Mannon, J; Rashid, Y; Crow, Y; Bond, J; Woods, C G Journal: Journal of medical genetics Issue: Volume 39:Issue 10(2002) Page Start: 718 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31. Issue 10 (25th September 2007) Authors: Ghazawy, S; Springell, K; Gauba, V; McKibbin, M A; Inglehearn, C F Journal: British journal of ophthalmology Issue: Volume 91:Issue 10(2007) Page Start: 1411 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The molecular landscape of ASPM mutations in primary microcephaly. Issue 4 (21st November 2008) Authors: Nicholas, A K; Swanson, E A; Cox, J J; Karbani, G; Malik, S; Springell, K; Hampshire, D; Ahmed, M; Bond, J; Di Benedetto, D; Fichera, M; Romano, C; Dobyns, W B; Woods, C G Journal: Journal of medical genetics Issue: Volume 46:Issue 4(2009) Page Start: 249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗