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Results 1-10 of 32 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2007Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitusRaymond, F.; Tarpey, P.; Edkins, S.; Tofts, C.; O'Meara, S.; Teague, J.; Butler, A.; Stevens, C.; Barthorpe, S.; Buck, G.; Cole, J.; Dicks, E.; Gray, K.; Harrison, R.; Hills, K.; Hinton, J.; Jones, D.; Menzies, A.; Perry, J.; Raine, K.; et al.
2002Location and structure of the human FHR-5 geneMcRae, J.; Murphy, B.; Eyre, H.; Sutherland, G.; Crawford, J.; Cowan, P.
2001HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancersYoung, J.; Biden, K.; Simms, L.; Huggard, P.; Karamatic, R.; Eyre, H.; Sutherland, G.; Herath, N.; Barker, M.; Anderson, G.; Fitzpatrick, D.; Ramm, G.; Jass, J.; Leggett, B.
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.