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Results 31-40 of 107 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2000Gene encoding the mouse sulphamidase: cDNA cloning, structure, and chromosomal mappingCostanzi, E.; Beccari, T.; Stinchi, S.; Bibi, L.; Hopwood, J.; Orlacchio, A.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
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.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; 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.
2012Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delayLynch, S.; Nguyen, L.; Ng, L.; Waldron, M.; McDonald, D.; Gecz, J.
1995Localisation of the adenosine A2b receptor subtype (ADORA2B) to chromosome 17p11.2-p12 by FISH and PCR screening of somatic cell hybridsTownsend-Nicholson, A.; Baker, E.; Sutherland, G.; Schofield, P.
1995The CEPH consortium linkage map of human chromosome 16Kozman, H.; Keith, T.; Donis-Keller, H.; White, R.; Weissenbach, J.; Sutherland, G.
2001MUC13, a novel human cell surface mucin expressed by epithelial and hemopoietic cellsWilliams, S.; Wreschner, D.; Tran, M.; Eyre, H.; Sutherland, G.; McGuckin, M.
1996Feline mucopolysaccharidosis type VI - characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the diseaseYogalingam, G.; Litjens, T.; Bielicki, J.; Crawley, A.; Muller, V.; Anson, D.; Hopwood, J.