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PreviewIssue DateTitleAuthor(s)
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
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.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
1996Identification of the gene FMR2, associated with FRAXE mental retardationGecz, J.; Gedeon, A.; Sutherland, G.; Mulley, J.
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.