1. Adelaide Research & Scholarship

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Results 1-10 of 60 (Search time: 0.001 seconds).
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PreviewIssue DateTitleAuthor(s)
2013RAB40AL loss-of-function mutation does not cause X-linked intellectual disabilityKalscheuer, V.; Iqbal, Z.; Hu, H.; Haas, S.; Shaw, M.; Lebrun, N.; Seemanova, E.; Voesenek, K.; Hobson, L.; Ropers, H.H.; Townshend, S.; Raynaud, M.; van Bokhoven, H.; Riazuddin, S.; Chelly, J.; Gecz, J.
2013PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox exampleTan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2014UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disordersLaumonnier, F.; Nguyen, L.; Jolly, L.; Raynaud, M.; Gecz, J.; Patel, V.; Preedy, P.; Martin, C.
2013Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactionsMattiske, T.; Tan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2016New insights into Brunner syndrome and potential for targeted therapyPalmer, E.; Leffler, M.; Rogers, C.; Shaw, M.; Carroll, R.; Earl, J.; Cheung, N.; Champion, B.; Hu, H.; Haas, S.; Kalscheuer, V.; Gecz, J.; Field, M.
2015Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesisRamos-Brossier, M.; Montani, C.; Lebrun, N.; Gritti, L.; Martin, C.; Seminatore-Nole, C.; Toussaint, A.; Moreno, S.; Poirier, K.; Dorseuil, O.; Chelly, J.; Hackett, A.; Gecz, J.; Bieth, E.; Faudet, A.; Heron, D.; Kooy, R.; Loeys, B.; Humeau, Y.; Sala, C.; et al.
2014Nonsense-mediated mRNA decay: Inter-individual variability and human diseaseNguyen, L.; Wilkinson, M.; Gecz, J.
2015Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsyMcMichael, G.; Bainbridge, M.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Van Bon, B.; Van Eyk, C.; Broadbent, J.; Reynolds, C.; O'Callaghan, M.; Nguyen, L.; Adelson, D.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, D.; Gibbs, R.; Gecz, J.; MacLennan, A.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2013FOXP1 mutations cause intellectual disability and a recognizable phenotypeLe Fevre, A.; Taylor, S.; Malek, N.; Horn, D.; Carr, C.; Abdul-Rahman, O.; O'Donnell, S.; Burgess, T.; Shaw, M.; Gecz, J.; Bain, N.; Fagan, K.; Hunter, M.

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