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Results 1-10 of 16 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Interleukin 18 receptorSergi, B.; Penttila, I.
2000Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor familyParker, R.; Copeland, N.; Eyre, H.; Liu, M.; Gilbert, D.; Crawford, J.; Couzens, M.; Sutherland, G.; Jenkins, N.; Herzog, H.
2006Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationHagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Van Zutven, L.; Hoeltzenbein, M.; Tommerup, N.; Moraine, C.; Fryns, J.; Chelly, J.; van Bokhoven, H.; Gecz, J.; Dollfus, H.; Ropers, H.; Schwartz, C.; de Cassia Stocco dos Santos, R.; Kalscheuer, V.; Hanauer, A.
2000Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mappingCostanzi, E.; Beccari, T.; Stinchi, S.; Bibi, L.; Hopwood, J.; Orlacchio, A.
2004HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressorLalonde, J.; Lim, R.; Ingley, E.; Tilbrook, P.; Thompson, M.; McCulloch, R.; Beaumont, J.; Wicking, C.; Eyre, H.; Sutherland, G.; Howe, K.; Solomon, E.; Williams, J.; Klinken, 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.
2001Glycosidase active site mutations in human a-L-iduronidaseBrooks, 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.
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.
2004Overlapping motifs in the membrane-proximal region of cytokine receptor accessory and signaling subunitsD'Andrea, R.; Sadlon, T.; Gonda, T.