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Results 11-20 of 31 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2000Cytochrome P450 4A, peroxisomal enzymes and nicotinamide cofactors in koala liverNgo, S.; Kong, S.; Kirlich, A.; McKinnon, R.; Stupans, I.
1995Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndromeWilkie, A.; Slaney, S.; Oldridge, M.; Poole, M.; Ashworth, G.; Hockley, A.; Hayward, R.; David, D.; Pulleyn, L.; Rutland, P.; Malcolm, S.; Winter, R.; Reardon, W.
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.
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
2001CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.
2007DMRT gene cluster analysis in the platypus: New insights into genomic organization and regulatory regionsEl-Mogharbel, N.; Wakefield, M.; Deakin, J.; Tsend-Ayush, E.; Grutzner, F.; Alsop, A.; Ezaz, T.; Graves, J.
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.
1996A novel X-linked gene, G4.5. is responsible for Barth SyndromeBione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A.; Bolhuis, P.; 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.

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