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Browsing by Author Gecz, Jozef

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PreviewIssue DateTitleAuthor(s)
2006Mutation screening in Borjeson-Forssman-Lehmann syndrome: Identification of a novel, de novo PHF6 mutation in a female patientLower, Karen Marie; Crawford, Jo; Hennekam, R; van Esch, H; Megarbane, A; Lynch, SA; Turner, Gillian; Gecz, Jozef
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardationThomas, P; Thomas, T; Voss, A K; Sharma, Shiwani; Russell-Eggit, Isabelle M; Craig, Jamie E; Sale, Michele M; Mackey, David A; Wirth, M Gabriela; Gajovic, S; Clarke, M P; Gecz, Jozef; Elder, James E; Gruss, P; Fitzgerald, Liesel M; McKay, James D; Shaw, Marie A; Nicholl, A; Ross, S; Stankich, J M; Burdon, Kathryn Penelope
2006Nance-Horan syndrome protein, NHS, associates with epithelial cell junctionsSharma, Shiwani; Ang, Sharyn; Shaw, Marie A; Mackey, David A; Gecz, Jozef; McAvoy, J; Craig, Jamie E
2009NHS-A isoform of the NHS gene is a novel interactor of ZO-1Sugiyama, Yuki; McMellon, Amy E; Gecz, Jozef; Koh, K.S.Y.; McAvoy, J; Voss, A K; Craig, Jamie; Sharma, Shiwani; Collin, C; Dave, Alpana
2008Novel causative mutations in patients with Nance-Horan Syndrome and altered localization of the mutant NHS-A protein isoformSharma, Shiwani; Burdon, Kathryn Penelope; Craig, Jamie E; Dave, Alpana; Jamieson, Robyn; Yaron, Yuval; Billson, Frank; Maldergem, Lionel; Lorenz, Birgit; Gecz, Jozef
2009A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyEdwards, Matthew; Pater, John Brian; Burke, Mary; Straga, Tania; Gecz, Jozef; Liebelt, J E; Craig, Jamie; Burdon, Kathryn Penelope; Durkin, Shane
2008A novel locus for X-lined congenital cataract on Xq24Craig, Jamie E; Friend, K; Gecz, Jozef; Rattray, K M; Troski, Mark; Mackey, David A; Burdon, Kathryn Penelope
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