1. Adelaide Research & Scholarship

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Results 1-10 of 12 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1996A novel mutation in Exon 6 (F236S) of the proteolipid protein gene is associated with spastic paraplegiaDonnelly, A.; Colley, A.; Crimmins, D.; 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.
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.
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.
1996Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardationGedeon, A.; Glass, I.; Connor, J.; 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.
1997Genetics heterogeneity in familial acute myelogenous leukemia: Evidence for a second locus at chromosome 16q21-23.2Horwitz, M.; Benson, K.; Li, F.Q.; Wolff, J.; Leppert, M.; Hobson, L.; Mangelsdorf, M.; Yu, S.; Hewett, D.; Richards, R.; Raskind, W.
1996A novel X-linked gene, G4.5. is responsible for Barth SyndromeBione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A.; Bolhuis, P.; Toniolo, D.

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