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PreviewIssue DateTitleAuthor(s)
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.
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.
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.