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Results 1-10 of 11 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)Gedeon, A.; Turner, G.; 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.
1996Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)Gedeon, A.; Haan, E.; Mulley, J.
1996Refinement of the background genetic map of Xq26-q27 and gene localisation for Borjeson-Forssman-Lehmann syndromeGedeon, A.; Kozman, H.; Robinson, H.; Pilia, G.; Schlessinger, D.; Turner, G.; Mulley, J.
2003X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Gedeon, A.; Nelson, J.; Gecz, J.; 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.
2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2001Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plusWallace, R.; Scheffer, I.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G.; George Jr., A.; Mulley, J.; Berkovic, S.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
1996The first gene for an idiopathic epilepsy: A fruitful collaboration of Australian Clinical Research and Molecular GeneticsBerkovic, S.; Mulley, J.

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