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PreviewIssue DateTitleAuthor(s)
2008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentDibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
2008The mir-200 family and mir-205 regulate epithelial to mesenchymal transition by targeting ZEB1 and SIP1Gregory, P.; Bert, A.; Paterson, E.; Barry, S.; Tsykin, A.; Farshid, G.; Vadas, M.; Khew-Goodall, Y.; Goodall, G.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2008A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritisMartin, D.; Atmuri, V.; Hemming, R.; Farley, J.; Mort, J.; Byers, S.; Hombach-Klonisch, S.; Stern, R.; Triggs-Raine, B.
2003Prevalence of mucopolysaccharidosis type VI mutations in Siamese catsCrawley, A.; Muntz, F.; Haskins, M.; Jones, B.; Hopwood, J.

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