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Results 31-40 of 59 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1997The gene for the human interleukin-11 receptor alpha chain locus is highly homologous to the murine gene and contains alternatively spliced first exonsNandurkar, H.; Robb, L.; Nicholl, J.; Hilton, D.; Sutherland, G.; Begley, C.
1998Complex organisation of the 5'-end of the human glycine tRNA synthetase geneMudge, S.; Williams, J.; Eyre, H.; Sutherland, G.; Cowan, P.; Power, D.
2004Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardationWeaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
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.
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
1995In vivo delivery of human α-L-iduronidase in mice implanted with neo-organsSalvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.
2004Overlapping motifs in the membrane-proximal region of cytokine receptor accessory and signaling subunitsD'Andrea, R.; Sadlon, T.; Gonda, T.
1997AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal locationStapleton, D.; Woollatt, E.; Mitchelhill, K.; Nicholl, J.; Fernandez, C.; Michell, B.; Witters, L.; Power, D.; Sutherland, G.; Kemp, B.
2007Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox geneShoubridge, C.; Cloosterman, D.; Parkinson-Lawrence, E.; Brooks, D.; Gecz, J.