Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.


Results 11-20 of 29 (Search time: 0.002 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
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.
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.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
2010Iminochromene inhibitors of dynamins I and II GTPase activity and endocytosisHill, T.; Mariana, A.; Gordon, C.; Odell, L.; Robertson, M.; McGeachie, A.; Chau, N.; Daniel, J.; Gorgani, N.; Robinson, P.; McCluskey, A.
2011Clinical effects and treatment of envenoming by Hoplocephalus spp. snakes in Australia: Australian Snakebite Project (ASP-12)Isbister, G.; White, J.; Currie, B.; O'Leary, M.; Brown, S.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2010Determinants of the induction of cortical plasticity by non-invasive brain stimulation in healthy subjectsRidding, M.; Ziemann, U.