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Results 11-20 of 76 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
2007Reduced cortical inhibition in a mouse model of familial childhood absence epilepsyTan, H.; Reid, C.; Single, F.; Davies, P.; Chiu, C.; Murphy, S.; Clarke, A.; Dibbens, L.; Krestel, H.; Mulley, J.; Jones, M.; Seeburg, P.; Sakmann, B.; Berkovic, S.; Sprengel, R.; Petrou, S.
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
2007What is the role of genetics in epilepsy?Scheffer, I.; Dibbens, L.; Berkovic, S.; Mulley, J.; Sanjay Sisodiya,; Epilepsy Research Foundation workshop (6th : 2006 : Oxford, UK)
1996A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegiaDonnelly, A.; Colley, A.; Crimmins, D.; Mulley, J.
1996Regional localisation of two non-specific X-linked mental retardation genes (MRX 30 and MRX 31)Donnelly, A.; Partington, M.; Ryan, A.; 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.
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.
1995X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndromeGedeon, A.; Wilson, M.; Colley, A.; Sillence, D.; Mulley, J.
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.

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