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Results 11-20 of 35 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2013The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowthJolly, L.; Homan, C.; Jacob, R.; Barry, S.; Gecz, J.
2010Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disordersHemsley, K.; Hopwood, J.
2012A possible murine model for investigation of pathogenesis of Sudden Infant Death SyndromeBettelheim, K.; Luke, R.; Johnston, N.; Pearce, J.; Goldwater, P.
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.
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.
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.
2010Robust, reversible gene knockdown using a single lentiviral short hairpin RNA vectorBrown, C.; Sadlon, T.; Gargett, T.; Melville, E.; Zhang, R.; Drabsch, Y.; Ling, M.; Strathdee, C.; Gonda, T.; Barry, S.
2010Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIADerrick Roberts, A.; Fletcher, J.; Moore, L.; Byers, S.