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

著者: Ghazawy, S, Springell, K, Gauba, V, McKibbin, M A, Inglehearn, C F
出版事項 2007

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

著者: Roberts, E, Hampshire, D, Pattison, L, Springell, K, Jafri, H, Corry, P, Mannon, J, Rashid, Y, Crow, Y, Bond, J, Woods, C
出版事項 2002

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

著者: 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.
出版事項 2006

The molecular landscape of ASPM mutations in primary microcephaly

著者: 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
出版事項 2009