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Results 31-40 of 90 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesDimasi, D.; Chen, J.; Hewitt, A.; Klebe, S.; Davey, R.; Stirling, J.; Thompson, E.; Forbes, R.; Tan, T.; Savarirayan, R.; Mackey, D.; Healey, P.; Mitchell, P.; Burdon, K.; Craig, J.
2013A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXPoeta, L.; Fusco, F.; Drongitis, D.; Shoubridge, C.; Manganelli, G.; Filosa, S.; Paciolla, M.; Courtney, M.; Collombat, P.; Lioi, M.; Gecz, J.; Ursini, M.; Miano, M.
1995The closely linked genes encoding the myeloid nuclear differentation antigen (MNDA) and IFI16 exhibit contrasting haemopoietic expressionDawson, M.; Trapani, J.; Briggs, R.; Nicholl, J.; Sutherland, G.; Baker, E.
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.
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.
2008Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosisBerkovic, S.; Dibbens, L.; Oshlack, A.; Silver, J.; Katerelos, M.; Vears, D.; Lullmann-Rauch, R.; Blanz, J.; Zhang, K.; Stankovich, J.; Kalnins, R.; Dowling, J.; Andermann, E.; Andermann, F.; Faldini, E.; D'Hooge, R.; Vadlamudi, L.; Macdonnell, R.; Hodgson, B.; Bayly, M.; 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.
2000Y-receptor-like genes GPR72 and GPR73: molecular cloning, genomic organisation and assignment to human chromosome 11q21.1 and 2p14 and mouse chromosome 9 and 6Parker, R.; Liu, M.; Eyre, H.; Copeland, N.; Gilbert, D.; Crawford, J.; Sutherland, G.; Jenkins, N.; Herzog, H.
2007Long-term intra-articular administration of recombinant human N-acetylgalactosamine-4-sulfatase in feline mucopolysaccharidosis VIAuclair, D.; Hopwood, J.; Lemontt, J.; Chen, L.; Byers, S.
2004In vitro characterization of genetically modified embryonic stem cells as a therapy for murine mucopolysaccharidosis type IIIALau, A.; Hemsley, K.; Meedeniya, A.; Hopwood, J.