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Results 1-10 of 19 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1999CD44Kremmidiotis, G.
2017Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signallingHughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
2003Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout miceRaben, N.; Nagaraju, K.; Lee, A.; Lu, N.; Rivera, Y.; Jatkar, T.; Hopwood, J.; Plotz, P.
2013A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndromeBuchovecky, C.; Turley, S.; Brown, H.; Kyle, S.; McDonald, J.; Liu, B.; Pieper, A.; Huang, W.; Katz, D.; Russell, D.; Shendure, J.; Justice, M.
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.
2009Interaction of dietary zinc and intracellular binding protein metallothionein in postnatal bone growthFong, L.; Tan, K.; Tran, C.; Cool, J.; Scherer, M.; Elovaris, R.; Coyle, P.; Foster, B.; Rofe, A.; Xian, C.
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.
2010High-spatial resolution matrix-assisted laser desorption ionization imaging analysis of glucosylceramide in spleen sections from a mouse model of Gaucher DiseaseSnel, M.; Fuller, M.
2001Conditional tissue-specific expression of the acid α-glucosidase (GAA) gene in the GAA knockout mice: implications for therapyRaben, N.; Lu, N.; Nagaraju, K.; Rivera, Y.; Lee, A.; Yan, B.; Byrne, B.; Meikle, P.; Umapathysivam, K.; Hopwood, J.; Plotz, P.