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

Por Ghazawy, S, Springell, K, Gauba, V, McKibbin, M A, Inglehearn, C F
Publicado em 2007

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

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

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

Por 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.
Publicado em 2006

The molecular landscape of ASPM mutations in primary microcephaly

Por 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
Publicado em 2009