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Results 1-10 of 15 (Search time: 0.003 seconds).
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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.
1996Clinicopathologic features of congenital aneurysms of the great vesselsAdes, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
2004Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyKarageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J.
2005Correlation of acid a-glucosidase and glycogen content in skin fibroblasts with age of onset in Pompe diseaseUmapathysivam, K.; Hopwood, J.; Meikle, P.
2004Glycosaminoglycan degradation fragments in mucopolysaccharidosis IFuller, M.; Meikle, P.; Hopwood, J.
1995In vivo delivery of human α-L-iduronidase in mice implanted with neo-organsSalvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.
1996Correction of Sanfilippo a Skin Fibroblasts By Retroviral Vector-Mediated Gene TransferBielicki, J.; Hopwood, J.; Anson, D.
2005Prediction of neuropathology in mucopolysaccharidosis I patientsFuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
1998Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activityYogalingam, G.; Hopwood, J.; Crawley, A.; Anson, D.
2005Immunoquantification of b-glucosidase: Diagnosis and prediction of severity in Gaucher diseaseFuller, M.; Lovejoy, M.; Hopwood, J.; Meikle, P.