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Results 11-20 of 36 (Search time: 0.002 seconds).
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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.
2008Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationFroyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.; Laumonnier, F.; Ranieri, E.; Schwartz, C.; Abidi, F.; Tarpey, P.; Futreal, P.; et al.
2001Fcα/μ receptor is a single gene-family member closely related to polymeric immunoglobulin receptor encoded on Chromosome 1Shimizu, Y.; Honda, S.; Yotsumoto, K.; Tahara-Hanaoka, S.; Eyre, H.; Sutherland, G.; Endo, Y.; Shibuya, K.; Koyama, A.; Nakauchi, H.; Shibuya, A.
2001MUC13, a novel human cell surface mucin expressed by epithelial and hemopoietic cellsWilliams, S.; Wreschner, D.; Tran, M.; Eyre, H.; Sutherland, G.; McGuckin, M.
2004Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationTao, J.; Van Esch, H.; Hagedorn-Greiwe, M.; Hoffmann, K.; Moser, B.; Raynaud, M.; Sperner, J.; Fryns, J.; Schwinger, E.; Gecz, J.; Ropers, H.; Kalscheuer, V.
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.
2004Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, M.; et al.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.