1. Adelaide Research & Scholarship

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Results 101-110 of 139 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2007Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressorMcKenzie, O.; Ponte, I.; Mangelsdorf, M.; Finnis, M.; Colasante, G.; Shoubridge, C.; Stifani, S.; Gecz, J.; Broccoli, V.
2007Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHKousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; van Bokhoven, H.; de Brouwer, A.; Van Esch, H.; Froyen, G.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P.
2007Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityVoss, A.; Gamble, R.; Collin, C.; Shoubridge, C.; Corbett, M.; Gecz, J.; Thomas, T.
2011Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decayBruno, I.; Karam, R.; Huang, L.; Bhardwaj, A.; Lou, C.; Shum, E.; Song, H.; Corbett, M.; Gifford, W.; Gecz, J.; Pfaff, S.; Wilkinson, M.
2008Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutationTurner, G.; Boyle, J.; Partington, M.; Kerr, B.; Raymond, F.; Gecz, J.
2010Genetics of the epilepsies: Genetic twists in the channels and other talesScheffer, I.; Zhang, Y.; Gecz, J.; Dibbens, L.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2006ZNF674: A new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationLugtenberg, D.; Yntema, H.; Banning, M.; Oudakker, A.; Firth, H.; Willatt, L.; Raynaud, M.; Kleefstra, T.; Fryns, J.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; van Reeuwijk, J.; Nabuurs, S.; de Vries, B.; Hamel, B.; de Brouwer, A.; van Bokhoven, H.
2004Partial androgen insensitivity syndrome and t(X;5): Are there upstream regulatory elements of the androgen receptor gene?Lower, K.; Kumar, R.; Woollatt, E.; Villard, L.; Gecz, J.; Sutherland, G.; Callen, D.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.

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