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Results 21-30 of 153 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2002Location and structure of the human FHR-5 geneMcRae, J.; Murphy, B.; Eyre, H.; Sutherland, G.; Crawford, J.; Cowan, P.
2000Cloning, expression and chromosomal localization of a novel human dipeptidyl peptidase (DDP) IV homolog, DPP8Abbott, C.; Yu, D.; Woollatt, E.; Sutherland, G.; McCaughan, G.; Gorrell, M.
2015A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMuona, M.; Berkovic, S.; Dibbens, L.; Oliver, K.; Maljevic, S.; Bayly, M.; Joensuu, T.; Canafoglia, L.; Franceschetti, S.; Michelucci, R.; Markkinen, S.; Heron, S.; Hildebrand, M.; Andermann, E.; Andermann, F.; Gambardella, A.; Tinuper, P.; Licchetta, L.; Scheffer, I.; Criscuolo, C.; et al.
1995Expression, purification and characterization of recombinant human N-acetylgalactosamine-6-sulphataseBielicki, J.; Fuller, M.; Guo, X.H.; Morris, C.; Hopwood, J.; Anson, D.
1995Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisationHunt, C.; Eyre, H.; Akkari, P.; Meredith, C.; Dorosz, S.; Wilton, S.; Callen, D.; Laing, N.; Baker, E.
1995Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase proteinBrooks, D.; Robertson, D.; Bindloss, C.; Litjens, T.; Anson, D.; Peters, C.; Morris, C.; Hopwood, J.
2001HPP1: A transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancersYoung, J.; Biden, K.; Simms, L.; Huggard, P.; Karamatic, R.; Eyre, H.; Sutherland, G.; Herath, N.; Barker, M.; Anderson, G.; Fitzpatrick, D.; Ramm, G.; Jass, J.; Leggett, B.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
2005Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS)Wieland, I.; Reardon, W.; Jakubiczka, S.; Franco, B.; Kress, W.; Vincent-Delorme, C.; Theirry, P.; Edwards, M.; Konig, R.; Rusu, C.; Schweiger, S.; Thompson, E.; Tinschert, S.; Stewart, F.; Wieacker, P.