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Results 51-60 of 148 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Nova regulates GABA(A) receptor gamma 2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancerDredge, B.; Darnell, R.
2014Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human diseaseNewman, M.; Wilson, L.; Verdile, G.; Lim, A.; Khan, I.; Nik, S.; Pursglove, S.; Chapman, G.; Martins, R.; Lardelli, M.
2014Overexpression of piRNA pathway genes in epithelial ovarian cancerLim, S.; Ricciardelli, C.; Oehler, M.; De Arao Tan, I.; Russell, D.; Grützner, F.; Samant, R.
2015Human-assisted invasions of Pacific islands by Litoria frogs: a case study of the bleating tree frog on Lord Howe IslandPlenderleith, T.; Smith, K.; Donnellan, S.; Reina, R.; Chapple, D.; Patterson, H.
2004Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IVWard, T.; Valberg, S.; Adelson, D.; Abbey, C.; Binns, M.; Mickelson, J.
2001Peptide insertions in domain 4 of hbc, the shared signalling receptor subunit for GM-CSF, IL3 and IL5, induce ligand-independent activationJones, K.; Bagley, C.; Butcher, C.; Barry, S.; Vadas, M.; D'Andrea, R.
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.