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Results 21-30 of 38 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationWeaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.
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.
1995In vivo delivery of human α-L-iduronidase in mice implanted with neo-organsSalvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.
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.
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.
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.
1995Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a 'hot-spot' for recombination at 16p12Callen, D.; Lane, S.; Kozman, H.; Kremmidiotis, G.; Whitmore, S.; Lowenstein, M.; Doggett, N.; Kenmochi, N.; Page, D.; Maglott, D.; Nierman, W.; Murakawa, K.; Sikela, J.; Houlgatte, R.; Auffray, C.; Sutherland, G.