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Results 1-10 of 11 (Search time: 0.006 seconds).
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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.
2005NmlR of Neisseria gonorrhoeae : a novel redox responsive transcription factor from the MerR familyKidd, S.; Potter, A.; Apicella, M.; Jennings, M.; McEwan, A.
2003Nova regulates GABA(A) receptor gamma 2 alternative splicing via a distal downstream UCAU-rich intronic splicing enhancerDredge, B.; Darnell, R.
2014Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human diseaseNewman, M.; Wilson, L.; Verdile, G.; Lim, A.; Khan, I.; Nik, S.; Pursglove, S.; Chapman, G.; Martins, R.; Lardelli, M.
2004Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IVWard, T.; Valberg, S.; Adelson, D.; Abbey, C.; Binns, M.; Mickelson, J.
2009Thioredoxin reductase is essential for protection of neisseria gonorrhoeae against killing by nitric oxide and for bacterial growth during interaction with cervical epithelial cellsPotter, A.; Kidd, S.; Edwards, J.; Falsetta, M.; Apicella, M.; Jennings, M.; McEwan, A.
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.
2001The molecular basis of X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Tiller, G.; Le Merrer, M.; Heuertz, S.; Tranebjaerg, L.; Chitayat, D.; Robertson, S.; Glass, I.; Savarirayan, R.; Cole, W.; Rimoin, D.; Kousseff, B.; Ohashi, H.; Zabel, B.; Munnich, A.; Gecz, J.; Mulley, J.
1996A novel X-linked gene, G4.5. is responsible for Barth SyndromeBione, S.; D'Adamo, P.; Maestrini, E.; Gedeon, A.; Bolhuis, P.; Toniolo, D.
1998PAK3 mutation in nonsyndromic X-linked mental retardationAllen, K.; Gleeson, J.; Bagrodia, S.; Partington, M.; MacMillan, J.; Cerione, R.; Mulley, J.; Walsh, C.