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

بواسطة Ghazawy, S, Springell, K, Gauba, V, McKibbin, M A, Inglehearn, C F
منشور في 2007

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

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

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

بواسطة 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.
منشور في 2006

The molecular landscape of ASPM mutations in primary microcephaly

بواسطة 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
منشور في 2009