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Results 21-30 of 43 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
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.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
1996Positional cloning of the Fanconi anaemia group A geneApostolou, S.; Whitmore, S.; Crawford, J.; Lennon, G.; Sutherland, G.; Callen, D.; Ianzano, L.; Savino, M.; d'Apolito, M.; Notarangelo, A.; Memeo, E.; Piemontese, M.; Zelante, L.; Savoia, A.; Gibson, R.; Tipping, A.; Morgan, N.; Hassock, S.; Jansen, S.; de Ravel, T.; et al.
1995Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeScott, H.; Blanch, L.; Guo, X.H.; Freeman, C.; Orsborn, A.; Baker, E.; Sutherland, G.; Morris, C.; Hopwood, 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.
1998Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 geneGibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
1995Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23Taske, N.; Eyre, H.; O'Brien, R.; Sutherland, G.; Denborough, M.; Foster, P.
1995Isolation and characterisation of a recombinant precursor form of lysosomal acid α-glucosidaseFuller, M.; Van der Ploeg, A.; Reuser, A.; Anson, D.; Hopwood, J.
1998Characterization and chromosome location of the gene GSTZ1 encoding the human Zeta class glutathione transferase and maleylacetoacetate isomeraseBlackburn, A.; Woollatt, E.; Sutherland, G.; Board, P.