Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31

per Ghazawy, S, Springell, K, Gauba, V, McKibbin, M A, Inglehearn, C F
Publicat 2007

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

per Roberts, E, Hampshire, D, Pattison, L, Springell, K, Jafri, H, Corry, P, Mannon, J, Rashid, Y, Crow, Y, Bond, J, Woods, C
Publicat 2002

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

per Woods, C. G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S. M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.
Publicat 2006

The molecular landscape of ASPM mutations in primary microcephaly

per 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
Publicat 2009