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Results 21-30 of 138 (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.
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.
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.
2004Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III AMuschol, N.; Storch, S.; Balhausen, D.; Beesley, C.; Westermann, J.; Gal, A.; Ullrich, K.; Hopwood, J.; Winchester, B.; Braulke, T.
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.