1. Adelaide Research & Scholarship

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Results 121-130 of 134 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disordersWhite, R.; Ho, G.; Schmidt, S.; Scheffer, I.; Fischer, A.; Yendle, S.; Bienvenu, T.; Nectoux, J.; Ellaway, C.; Darmanian, A.; Tong, X.; Cloosterman, D.; Bennetts, B.; Kalra, V.; Fullston, T.; Gecz, J.; Cox, T.; Christodoulou, J.
2010Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disabilityShoubridge, C.; Walikonis, R.; Gecz, J.; Harvey, R.
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.
2012Polyalanine tract disorders and neurocognitive phenotypesShoubridge, C.; Gecz, J.; Hannan, A.
2009Börjeson-Forssman-Lehmann SyndromeCrawford, J.; Partington, M.; Corbett, M.; Lower, K.; Gecz, J.; Beales, P.; Farooqi, I.; O'Rahilly, S.
2015A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113ACorbett, M.A.; Dudding-Byth, T.; Crock, P.A.; Botta, E.; Christie, L.M.; Nardo, T.; Caligiuri, G.; Hobson, L.; Boyle, J.; Mansour, A.; Friend, K.L.; Crawford, J.; Jackson, G.; Vandeleur, L.; Hackett, A.; Tarpey, P.; Stratton, M.R.; Turner, G.; Gecz, J.; Field, M.
2000Gene structure and expression study of the SEDL gene for Spondyloepiphyseal Dysplasia TardaGecz, J.; Hillman, M.; Gedeon, A.; Cox, T.; Baker, E.; Mulley, J.
2002A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutationShaw, M.; Chiurazzi, P.; Romain, D.; Neri, G.; Gecz, J.
2001Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27Lower, K.; Gecz, J.
1999Characterisation and expression of a large, 13.7 kb FMR2 isoformGecz, J.; Mulley, J.

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