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PreviewIssue DateTitleAuthor(s)
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.
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.
1997The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathiesD'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E.; Bione, S.; Bolhuis, P.; Barth, P.; Wilson, M.; Haan, E.; Orstavik, H.; Patton, M.; Green, A.; Zammarchi, E.; Donati, M.; Toniolo, D.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
1998A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.Town, M.; Jean, G.; Cherqui, S.; Attard, M.; Forestier, L.; Whitmore, S.; Callen, D.; Gribouval, O.; Broyer, M.; Bates, G.; van't Hoff, W.; Antignac, C.
1998The human dead ringer/bright homolog, DRIL1: cDNA cloning, gene structure, and mapping to D19S886, a marker on 19p13.3 that is strictly linked to the Peutz-Jeghers Syndrome.Kortschak, R.; Reimann, H.; Zimmer, M.; Eyre, H.; Saint, R.; Jenne, D.

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