1. Adelaide Research & Scholarship

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Results 11-20 of 43 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1999Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientGecz, J.; Baker, E.; Donnelly, A.; Ming, J.; McDonald-McGinn, D.; Spinner, N.; Zackai, E.; Sutherland, G.; Mulley, J.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
2003Development of a diagnostic PCR assay that targets a heat-shock protein gene (groES) for detection of Pseudomonas spp. in cystic fibrosis patientsClarke, L.; Moore, J.; Millar, B.; Garske, L.; Xu, J.; Heuzenroeder, M.; Crowe, M.; Elborn, J.
2008Retroposed SNOfall - A mammalian-wide comparison of platypus snoRNAsSchmitz, J.; Zemann, A.; Churakov, G.; Kuhl, H.; Grutzner, F.; Reinhardt, R.; Brosius, J.
2010Functional and structural diversification of the Anguimorpha lizard venom systemScanlon, D.
2013HIV non-B subtype distribution: Emerging trends and risk factors for imported and local infections newly diagnosed in South AustraliaHawke, K.; Waddell, R.; Gordon, D.; Ratcliff, R.; Ward, P.; Kaldor, J.
2009Identifying candidate serum biomarkers of exposure to tunicamycins in rats using two-dimensional electrophoresisPenno, M.; Bacic, A.; Colegate, S.; Hoffmann, P.; Michalski, W.
2013A heterozygous moth genome provides insights into herbivory and detoxificationYou, M.; Baxter, S.

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