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Results 21-30 of 134 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2014Nonsense-mediated mRNA decay: Inter-individual variability and human diseaseNguyen, L.; Wilkinson, M.; Gecz, J.
2015Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsyMcMichael, G.; Bainbridge, M.; Haan, E.; Corbett, M.; Gardner, A.; Thompson, S.; Van Bon, B.; Van Eyk, C.; Broadbent, J.; Reynolds, C.; O'Callaghan, M.; Nguyen, L.; Adelson, D.; Russo, R.; Jhangiani, S.; Doddapaneni, H.; Muzny, D.; Gibbs, R.; Gecz, J.; MacLennan, A.
2015Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activityBrookes, E.; Laurent, B.; Õunap, K.; Carroll, R.; Moeschler, J.; Field, M.; Schwartz, C.; Gecz, J.; Shi, Y.
2007Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionFroyen, G.; Bauters, M.; Boyle, J.; Van Esch, H.; van Bokhoven, H.; Ropers, H.; Moraine, C.; Chelly, J.; Fryns, J.; Marynen, P.; Gecz, J.; Turner, G.
2013FOXP1 mutations cause intellectual disability and a recognizable phenotypeLe Fevre, A.; Taylor, S.; Malek, N.; Horn, D.; Carr, C.; Abdul-Rahman, O.; O'Donnell, S.; Burgess, T.; Shaw, M.; Gecz, J.; Bain, N.; Fagan, K.; Hunter, M.
2012A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disabilityHuang, L.; Poke, G.; Gecz, J.; Gibson, K.
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2010ARX spectrum disorders: Making inroads into the molecular pathologyShoubridge, C.; Fullston, T.; Gecz, J.
2009Clinical Study of Two Brothers With a Novel 33 bp Duplication in the ARX GeneDemos, M.; Fullston, T.; Partington, M.; Gecz, J.; Gibson, W.
2004Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neuronsColombo, E.; Galli, R.; Cossu, G.; Gecz, J.; Broccoli, V.