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Results 1-10 of 76 (Search time: 0.008 seconds).
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PreviewIssue DateTitleAuthor(s)
2004Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12Berkovic, S.; Serratosa, J.; Phillips, H.; Xiong, L.; Andermann, E.; Diaz-Otero, F.; Gomez-Garre, P.; Martin, M.; Fernandez-Bullido, Y.; Andermann, F.; Lopes-Cendes, I.; Dubeau, F.; Desbiens, R.; Scheffer, I.; Wallace, R.; Mulley, J.; Pandolfo, M.
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.
2003Channelopathies as a genetic cause of epilepsyMulley, J.; Scheffer, I.; Petrou, S.; Berkovic, S.
2007Fragile X Syndrome and other causes of X-Linked mental handicapSutherland, G.; Gecz, J.; Mulley, J.; Rimoin, D.; Connor, J.; Emery, A.; Pyeritz, R.; Korf, B.
2008Forty years from markers to genesMulley, 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.
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
1998Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Phillips, H.; Scheffer, I.; Crossland, K.; Bhatia, K.; Fish, D.; Marsden, C.; Howell, S.; Stephenson, J.; Tolmie, J.; Plazzi, G.; Eeg-Olofsson, O.; Singh, R.; Lopes-Cendes, I.; Andermann, E.; Berkovic, S.; Mulley, J.
1996Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)Gedeon, A.; Turner, G.; Mulley, J.

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