Author: Hannah Tipney
Location: International Systems for Molecular Biology
Year: 2004
Pages and publications about williams-beuren -- Results 1 to 7 of 7
Author: Carole Goble
Location: E-BioSci/ORIEL workshop
Year: 2004
Author: Carole Goble
Location: Global Grid Forum
Year: 2004
Citation: R. Stevens, H. Tipney, C. Wroe, T. Oinn, M. Senger, P. Lord, C. Goble, A. Brass, and M. Tassabehji, "Exploring Williams-Beuren syndrome using myGrid," Bioinformatics, vol. 20, iss. 1, pp. 303-310, 2004.
Citation: R. Stevens, H. Tipney, C. Wroe, T. Oinn, M. Senger, P. Lord, C. Goble, A. Brass, and M. Tassabehji, "Genome Science performed with e-Science Tools," in All Hands Meeting, 2004, pp. 768-775.
Citation: R. Gaizauskas, N. Davis, G. Demetriou, Y. Guo, and I. Roberts, "Integrating Biomedical Text Mining Services into a Distributed Workflow Environment," in All Hands Meeting, 2004.
Williams–Beuren Syndrome (WBS) is a rare, sporadically occurring microdeletion disorder caused by a 1.5 Mb deletion located in chromosome band 7q11.23. It is a complex, multisystem genetic disorder characterised by a complex phenotype of physical and behavioural attributes.
The region most commonly deleted in WBS is approximately 1.5Mb and typically causes the deletion of 24 genes. [...]