1. Adelaide Research & Scholarship

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Results 51-57 of 57 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2017USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitorsBridges, C.; Tan, M.; Premarathne, S.; Nanayakkara, D.; Bellette, B.; Zencak, D.; Domingo, D.; Gecz, J.; Murtaza, M.; Jolly, L.; Wood, S.
2018Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autismVan Eyk, C.; Corbett, M.; Gardner, A.; Van Bon, B.; Broadbent, J.; Harper, K.; MacLennan, A.; Gecz, J.
2018A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severityKolc, K.; Sadleir, L.; Scheffer, I.; Ivancevic, A.; Roberts, R.; Pham, D.; Gecz, J.
2017Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERĪ±)Pham, D.; Tan, C.; Homan, C.; Kolc, K.L.; Corbett, M.; McAninch, D.; Fox, A.; Thomas, P.; Kumar, R.; Gecz, J.
2011"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!Mulley, J.C.; Heron, S.E.; Wallace, R.H.; Gecz, J.; Dibbens, L.M.
2010A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32Hattersley, K.; Laurie, K.; Liebelt, J.; Gecz, J.; Durkin, S.; Craig, J.; Burden, K.
2019A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delayMucha, B.E.; Banka, S.; Ajeawung, N.F.; Molidperee, S.; Chen, G.G.; Koenig, M.K.; Adejumo, R.B.; Till, M.; Harbord, M.; Perrier, R.; Lemyre, E.; Boucher, R.M.; Skotko, B.G.; Waxler, J.L.; Thomas, M.A.; Hodge, J.C.; Gecz, J.; Nicholl, J.; McGregor, L.; Linden, T.; et al.

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