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Results 31-40 of 64 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
2004Role of N- and C-terminal residues of insulin-like growth factor (IGF)-binding protein-3 in regulating IGF complex formation and receptor activationYan, X.; Forbes, B.; McNeil, K.; Baxter, R.; Firth, S.
2011Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearingFasquelle, L.; Scott, H.; Lenoir, M.; Wang, J.; Rebillard, G.; Gaboyard, S.; Venteo, S.; Francois, F.; Masset-Bonnefont, A.; Antonarakis, S.; Neidhart, E.; Chabbert, C.; Puel, J.; Guipponi, M.; Delprat, B.
2013A heterozygous moth genome provides insights into herbivory and detoxificationYou, M.; Baxter, S.
2013Mutations in DEPDC5 cause familial focal epilepsy with variable fociDibbens, L.; de Vries, B.; Donatello, S.; Heron, S.; Hodgson, B.; Chintawar, S.; Crompton, D.; Hughes, J.; Bellows, S.; Klein, K.; Callenbach, P.; Corbett, M.; Gardner, A.; Kivity, S.; Iona, X.; Regan, B.; Weller, C.; Crimmins, D.; O'Brien, T.; Guerrero-Lopez, R.; et al.
2008Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activityNornes, S.; Newman, M.; Verdile, G.; Wells, S.; Stoick-Cooper, C.; Tucker, B.; Frederich-Sleptsova, I.; Martins, R.; Lardelli, M.
2007A review of genome mutation and Alzheimer's diseaseThomas, P.; Fenech, M.
2001CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.

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