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Results 1-10 of 132 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2009The genetic landscape of intellectual disability arising from chromosome XGecz, J.; Shoubridge, C.; Corbett, M.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2009A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyBurdon, K.; Durkin, S.; Burke, M.; Edwards, M.; Pater, J.; Straga, T.; Gecz, J.; Liebelt, J.; Craig, J.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2010CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypesHackett, A.; Tarpey, P.; Licata, A.; Cox, J.; Whibley, A.; Boyle, J.; Rogers, C.; Grigg, J.; Partington, M.; Stevenson, R.; Tolmie, J.; Yates, J.; Turner, G.; Wilson, M.; Futreal, P.; Corbett, M.; Shaw, M.; Gecz, J.; Raymond, F.; Stratton, M.
2010ARX spectrum disorders: Making inroads into the molecular pathologyShoubridge, C.; Fullston, T.; Gecz, J.
2012Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsField, M.; Scheffer, I.; Gill, D.; Wilson, M.; Christie, L.; Shaw, M.; Gardner, A.; Glubb, G.; Hobson, L.; Corbett, M.; Friend, K.; Willis-Owen, S.; Gecz, J.
2003Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do notGecz, J.; Shaw, M.; Bellon, J.; de Barros Lopes, M.
2003Brain cysts associated with mutation in the Aristaless related homeobox gene, ARXStromme, P.; Bakke, S.; Dahl, A.; Gecz, J.
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.