1. Adelaide Research & Scholarship

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Results 131-139 of 139 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2006ARX: a gene for all seasonsGecz, J.; Cloosterman, D.; Partington, M.
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.
2023Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticityKurolap, A.; Kreuder, F.; Gonzaga-Jauregui, C.; Duvdevani, M.P.; Harel, T.; Tammer, L.; Xin, B.; Bakhtiari, S.; Rice, J.; van Eyk, C.; Gecz, J.; Mah, J.K.; Atkinson, D.; Cope, H.; Sullivan, J.A.; Douek, A.M.; Colquhoun, D.; Henry, J.; Wlodkowic, D.; Parman, Y.; et al.; 55th European Society of Human Genetics Conference (ESHG) (11 Jun 2022 - 14 Jun 2022 : Vienna, Austria & virtual online)

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