Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome von Wilkie, Andrew O.M, Slaney, Sarah F, Oldridge, Michael, Poole, Michael D, Ashworth, Geraldine J, Hockley, Anthony D, Hayward, Richard D, David, David J, Pulleyn, Louise J, Rutland, Paul, Malcolm, Susan, Winter, Robin M, Reardon, William

Volltext

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome von SLANEY, S. F, OLDRIDGE, M, HURST, J. A, MORRISS-KAY, G. M, HALL, C. M, POOLE, M. D, WILKIE, A. O. M

Volltext

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes von Rutland, Paul, Pulleyn, Louise J, Reardon, William, Baraitser, Michael, Hayward, Richard, Jones, Barry, Malcolm, Sue, Winter, Robin M, Oldridge, Michael, Slaney, Sarah F, Poole, Michael D, Wilkie, Andrew O.M

Volltext

Exclusive paternal origin of new mutations in Apert syndrome von Wilkie, Andrew O.M, Moloney, Dominique M, Wall, Steven A, Stenman, Göran, Oldridge, Michael, Sahlin, Pelle, Slaney, Sarah R

Volltext

Asymmetry and skin pigmentary anomalies in chromosome mosaicism von Woods, C G, Bankier, A, Curry, J, Sheffield, L J, Slaney, S F, Smith, K, Voullaire, L, Wellesley, D

Volltext

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family von Slaney, S F, Chalmers, I J, Affara, N A, Chitty, L S

Volltext

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain von Gibbons, Richard J, Bachoo, Satvinder, Picketts, David J, Aftimos, Salim, Asenbauer, Bernhard, Bergoffen, JoAnn, Berry, Susan A, Dahl, Niklas, Fryer, Alan, Keppler, Kim, Kurosawa, Kenji, Levin, Michael L, Masuno, Mitsuo, Neri, Giovanni, Pierpont, Mary Ella, Slaney, Sarah F, Higgs, Douglas R

Volltext

MURCS in a male? von Wellesley, D G, Slaney, S F

Volltext

Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome) von Morris, A A, Sequeira, J S, Malone, M, Slaney, S F, Clayton, P T

Volltext

Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus von SLANEY, S. F, SPRIGG, A, DAVIES, N. P, HALL, C. M

Volltext

Hemifacial hypoplasia and hypomelanosis of Ito von Tan, S.T., Slaney, S.F., Ashworth, G., Poole, M.D.

Volltext

A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia von Slaney, S F, Chong, W K, Winter, R M

Volltext

A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia von Slaney, S F, Hall, C M, Atherton, D J, Winter, R M

Volltext

Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients: a new syndrome? von Plomp, A S, Baraitser, M, Slaney, S F, Winter, R M

Volltext

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome von OIdridge, M., Wilkie, A.O.M., SIaney, S.F., Poole, M.D., Pulleyn, L.J., Rutland, P., Hockley, A.D., Wake, M.J.C., Goldin, J.H., Winter, R.M., Reardon, W., Malcolm, S.

Volltext

DNA testing for fragile X syndrome in schools for learning difficulties von Slaney, S F, Wilkie, A O, Hirst, M C, Charlton, R, McKinley, M, Pointon, J, Christodoulou, Z, Huson, S M, Davies, K E

Volltext

Acromelic Frontonasal Dysostosis von Slaney, Sarah F., Goodman, Frances R., Eilers-Walsman, Betty L.C., Hall, Bryan D., Williams, Denise K., Young, Ian D., Hayward, Richard D., Jones, Barry M., Christianson, Arnold L., Winter, Robin M.

Volltext

Another case of the autosomal recessive Weaver-like syndrome von Slaney, Sarah F., Winter, Robin M.

Volltext

Another case of the autosomal recessive Weaver-like syndrome von Slaney, S F, Winter, R M

Volltext

Speech and hearing for the next billion users von Slaney, Malcolm, Lyon, Richard F.

Volltext