1. Adelaide Research & Scholarship

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Results 1-10 of 25 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
1997Short report on DNA marker at candidate locus. SSCP variants within the a4 subunit of the neuronal nicotinic acetylcholine receptor genePhillips, H.; Mulley, J.
1996How many X-linked genes for non-specific mental retardation (MRX) are there?Gedeon, A.; Donnelly, A.; Mulley, J.; Kerr, B.; Turner, G.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
1999Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientGecz, J.; Baker, E.; Donnelly, A.; Ming, J.; McDonald-McGinn, D.; Spinner, N.; Zackai, E.; Sutherland, G.; Mulley, J.
1998Febrile seizures and generalised epilepsy associated with a mutation in the Na+-channel b1 subunit gene SCN1BWallace, R.; Wang, D.; Singh, R.; Scheffer, I.; George Jnr., A.; Phillips, H.; Saar, K.; Reis, A.; Johnson, E.; Sutherland, G.; Berkovic, S.; Mulley, J.
1996The first gene for an idiopathic epilepsy: A fruitful collaboration of Australian Clinical Research and Molecular GeneticsBerkovic, S.; Mulley, J.
1996Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardationGedeon, A.; Glass, I.; Connor, J.; Mulley, J.
1996Fragile X Syndrome and other X-linked Causes of Mental HandicapSutherland, G.; Mulley, J.
1998Deafness due to Pro250Arg mutation of FGFR3Hollway, G.; Suthers, G.; Battese, K.; Turner, A.; David, D.; Mulley, J.

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