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Results 11-20 of 23 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
2001A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutantBhattacharyya, R.; Gliddon, B.; Beccari, T.; Hopwood, J.; Stanley, P.
2004Detection and significance of the potentially pathogenic amoeboflagellate Naegleria italica in AustraliaRobinson, B.; Monis, P.; Henderson, M.; Gelonese, S.; Ferrante, A.
2004Overlapping motifs in the membrane-proximal region of cytokine receptor accessory and signaling subunitsD'Andrea, R.; Sadlon, T.; Gonda, T.
2003Mouse sulphamidase gene: characterization of the promoter region of the gene and expression in mouse tissuesCostanzi, E.; Beccari, T.; Aisa, M.; Tiribuzi, R.; Hopwood, J.; Orlacchio, A.
2002α-Mannosidosis in the guinea pig: cloning of the lysosomal α-mannosidase cDNA and identification of a missense mutation causing α-mannosidosisBerg, T.; Hopwood, J.
2007Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneShoubridge, C.; Cloosterman, D.; Parkinson-Lawrence, E.; Brooks, D.; Gecz, J.
2002Immune response to enzyme replacement therapy: single epitope control of antigen distribution from circulationGlaros, E.; Turner, C.; Parkinson, E.; Hopwood, J.; Brooks, D.
2003Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotypeMaxwell, M.; Bjorkman, J.; Nguyen, T.; Sharp, P.; Finnie, J.; Paterson, C.; Tonks, I.; Paton, B.; Kay, G.; Crane, D.
2004LGI1 mutations in temporal lobe epilepsiesBerkovic, S.; Izzillo, P.; McMahon, J.; Harkin, L.; McIntosh, A.; Phillips, H.; Briellmann, R.; Wallace, R.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Scheffer, I.; Mulley, J.