1. Adelaide Research & Scholarship

Search


Current filters:
Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-10 of 134 (Search time: 0.004 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2013RAB40AL loss-of-function mutation does not cause X-linked intellectual disabilityKalscheuer, V.; Iqbal, Z.; Hu, H.; Haas, S.; Shaw, M.; Lebrun, N.; Seemanova, E.; Voesenek, K.; Hobson, L.; Ropers, H.H.; Townshend, S.; Raynaud, M.; van Bokhoven, H.; Riazuddin, S.; Chelly, J.; Gecz, J.
2013PCR amplification and sequence analysis of GC-rich sequences: Aristaless-related homeobox exampleTan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2000FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutationsGecz, J.
2014UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disordersLaumonnier, F.; Nguyen, L.; Jolly, L.; Raynaud, M.; Gecz, J.; Patel, V.; Preedy, P.; Martin, C.
2004Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesCantagrel, V.; Lossi, A.; Boulanger, S.; Depetris, D.; Mattei, M.; Gecz, J.; Schwartz, C.; van Maldergem, L.; Villard, L.
2013Challenges of 'sticky' co-immunoprecipitation: Polyalanine tract protein-protein interactionsMattiske, T.; Tan, M.; Gecz, J.; Shoubridge, C.; Hatters, D.; Hannan, A.
2004TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristophe-Hobertus, C.; Kooy, F.; Gecz, J.; Abramowicz, M.; Holinski-Feder, E.; Schwartz, C.; Christophe, D.
2008A novel locus for X-linked congenital cataract on Xq24Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
2009Unravelling the pathogenesis of the ARX homeobox mutations; role of IPO13Shoubridge, C.; Tan, M.; Fullston, T.; McGillivray, G.; Mancini, G.; Gecz, J.; Annual meeting of the American Society of Human Genetics (59th : 2009 : Honolulu, Hawaii)
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.

Discover