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Preview	Issue Date	Title	Author(s)
	2001	Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia	Goldwater, P.
	2001	Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications	Yogalingam, G.; Hopwood, J.
	2001	Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase	Litjens, T.; Hopwood, J.
	2001	A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda	Tiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
	2001	Glycosidase active site mutations in human a-L-iduronidase	Brooks, D.; Fabrega, S.; Hein, L.; Parkinson, E.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.; Hopwood, J.; Lehn, P.
	2001	Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of a-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation	Keeling, K.; Brooks, D.; Hopwood, J.; Li, P.; Thompson, J.; Bedwell, D.
	2001	Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)	Scheffer, I.; Wallace, R.; Mulley, J.; Berkovic, S.
	2001	Variable presentation of X-linked adrenal hypoplasia congenita	Wiltshire, E.; Couper, J.; Rodda, C.; Jameson, J.; Acherman, J.
	2001	Expression and characterization of human recombinant and a-N-actylglucosaminidase	Weber, B.; Hopwood, J.; Yogalingam, G.
	2001	Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients	Perkins, K.; Muller, V.; Weber, B.; Hopwood, J.