A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

Por Leal, G, Roberts, E, Silva, E, Costa, S, Hampshire, D, Woods, C
Publicado em 2003

Effect of the VWF promoter (GT)(n) repeat and SNP c.-2527G>A on circulating VWF levels under normal conditions

Por HICKSON, N, HAMPSHIRE, D, CASTAMAN, G, EIKENBOOM, J, RODEGHIERO, F, PEAKE, I, GOODEVE, A
Publicado em 2011

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Por Hampshire, D., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A., Al-Din, A., Woods, C
Publicado em 2001

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Por Mubaidin, A, Roberts, E, Hampshire, D, Dehyyat, M, Shurbaji, A, Mubaidien, M, Jamil, A, Al-Din, A, Kurdi, A, Woods, C
Publicado em 2003

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

von Willebrand Factor Variant p.Arg924Gln Marks an Allele Associated with Reduced von Willebrand Factor and Factor VIII Levels

Por HICKSON, N., HAMPSHIRE, D., WINSHIP, P., GOUDEMAND, J., SCHNEPPENHEIM, R., BUDDE, U., CASTAMAN, G., RODEGHIERO, F., FEDERICI, AB., JAMES, P., PEAKE, I., EIKENBOOM, J., GOODEVE, A.
Publicado em 2010

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