1. Adelaide Research & Scholarship

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Results 1-10 of 14 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrowFairbairn, L.; Lashford, L.; Spooncer, E.; McDermott, R.; Lebens, G.; Arrand, J.; Arrand, J.; Bellantuono, I.; Holt, R.; Hatton, C.; Cooper, A.; Besley, G.; Wraith, J.; Anson, D.; Hopwood, J.; Dexter, T.
1997Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evidentWicking, C.; Shanley, S.; Smyth, I.; Gillies, S.; Negus, K.; Graham, S.; Suthers, G.; Haites, N.; Edwards, M.; Wainwright, B.; Chenevix Trench, G.
1998X-linked adrenoleukodystrophy: the Australasian experienceKirk, E.; Fletcher, J.; Sharp, P.; Carey, B.; Poulos, A.
1997Unbalanced t(4;11)(q32-q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromesByatt, S.; Baker, E.; Richards, R.; Roberts, C.; Smith, A.
1997Mutations among Italian mucopolysaccharidosis Type I patientsGatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J.
1995The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implicationsScott, H.; Bunge, S.; Gal, A.; Clarke, L.; Morris, C.; Hopwood, J.
1999Expression and characterization of wild type and mutant recombinant human sulfamidase - Implications for Sanfilippo (mucopolysaccharidosis IIIA) syndromePerkins, K.; Byers, S.; Yogalingam, G.; Weber, B.; Hopwood, J.
1995Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation groupPoulos, A.; Christodoulou, J.; Chow, C.; Goldblatt, J.; Paton, B.; Orii, T.; Suzuki, Y.; Shimozawa, N.
1997Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme FunctionWeber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
1995Localization of craniosynostosis Adelaide type to 4p16Hollway, G.; Phillips, H.; Ades, L.; Haan, E.; Muley, J.

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