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Preview	Issue Date	Title	Author(s)
	2008	X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment	Dibbens, 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.
	2000	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations	Gecz, J.
	2004	Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy	Yogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; Hopwood, J.
	1995	Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation group	Poulos, A.; Christodoulou, J.; Chow, C.; Goldblatt, J.; Paton, B.; Orii, T.; Suzuki, Y.; Shimozawa, N.
	2005	Prediction of neuropathology in mucopolysaccharidosis I patients	Fuller, M.; Brooks, D.; Evangelista, M.; Hein, L.; Hopwood, J.; Meikle, P.
	2000	Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant a-N-acetylglocosaminidase and relationship with Sanfilippo phenotype in an attenuated patient	Yogalingam, G.; Weber, B.; Meehan, J.; Rogers, J.; Hopwood, J.
	1998	Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies	Bunge, S.; Clements, P.; Byers, S.; Kleijer, W.; Brooks, D.; Hopwood, J.
	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.