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Results 1-10 of 14 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2001
Bovine spongiform encephalopathy and variant Creutzfeldt-Jakob disease: implications for Australia
Goldwater, P.
2001
Impaired thrombin generation in b2-glycoprotein I null mice
Sheng, Y.
;
Reddel, S.
;
Herzog, H.
;
Wang, Y.
;
Brighton, T.
;
France, M.
;
Robertson, S.
;
Krilis, S.
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.
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Author
6
Hopwood, J.
3
Yogalingam, G.
2
Brooks, D.
2
Gecz, J.
2
Weber, B.
1
Aarnoudse, J.
1
Acherman, J.
1
Arngrimsson, R.
1
Bastiaans, E.
1
Bedwell, D.
.
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Subject
13
Humans
6
Animals
5
Phenotype
4
Female
4
Male
3
Cells, Cultured
3
DNA Mutational Analysis
3
Fibroblasts
3
Genetic Linkage
3
Genotype
.
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