1. Adelaide Research & Scholarship

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Results 31-36 of 36 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in micePederick, D.; Homan, C.; Jaehne, E.; Piltz, S.; Haines, B.; Baune, B.; Jolly, L.; Hughes, J.; Gecz, J.; Thomas, P.
2014FRA2A is a CGG repeat expansion associated with silencing of AFF3Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.; Pearson, C.
2016A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disabilityKumar, R.; Ha, T.; Pham, D.; Shaw, M.; Mangelsdorf, M.; Friend, K.L.; Hobson, L.; Turner, G.; Boyle, J.; Field, M.; Hackett, A.; Corbett, M.; Gecz, J.
2016Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyCorbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.
2013Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesisStegeman, S.; Jolly, L.; Premarathne, S.; Gecz, J.; Richards, L.; Mackay-Sim, A.; Wood, S.; Alsina, B.
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.

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