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Results 1-10 of 13 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
1997Dynamic mutation: possible mechanisms and significance in human diseaseRichards, R.; Sutherland, G.
1997Gene structure and subcellular localisation of FMR2, a member of a new family of putative transcription activatorsGecz, J.; Bielby, S.; 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.
1996Fragile X Syndrome and other X-linked Causes of Mental HandicapSutherland, 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.
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.; Sutherland, G.; Callen, D.
1999Characterization of the human glutamate receptor subunit 3 gene (GRIA3), a candidate for bipolar disorder and nonspecific X-linked mental retardationGecz, J.; Barnett, S.; Liu, J.; Hollway, G.; Donnelly, A.; Eyre, H.; Eshkevari, H.; Baltazar, R.; Grunn, A.; Nagaraja, R.; Gilliam, C.; Peltonen, L.; Sutherland, G.; Baron, M.; 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.