1. Adelaide Research & Scholarship

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Results 1-10 of 13 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Fragile X Syndrome and other X-linked Causes of Mental HandicapSutherland, G.; Mulley, J.
1995Overlapping submicroscopic deletions in Xq28 causing developmental disorders in two unrelated boysGedeon, A.; Keinanen, M.; Ades, L.; Kaarianen, H.; Gecz, J.; Baker, E.; Sutherland, G.; Mulley, J.
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
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.
2016Evidence for and against a pathogenic role of reduced γ-secretase activity in familial Alzheimer's diseaseJayne, T.; Newman, M.; Verdile, G.; Sutherland, G.; Münch, G.; Musgrave, I.; Moussavi Nik, S.; Lardelli, M.; Murphy, M.
1997Dynamic mutation: possible mechanisms and significance in human diseaseRichards, R.; Sutherland, G.
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.
1999Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHMFriend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
1999Genomic structure and expression analysis of the spastic paraplegia gene, SPG7Settasatian, C.; Whitmore, S.; Crawford, J.; Bilton, R.; Cleton-Jansen, A.M.; Sutherland, G.; Callen, D.

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