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Results 11-20 of 36 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2011Gaucher disease in sheepKarageorgos, L.; Lancaster, M.; Nimmo, J.; Hopwood, J.
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
2010Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determinationPearlman, A.; Loke, J.; Le Caignec, C.; White, S.; Chin, L.; Friedman, A.; Warr, N.; Willan, J.; Brauer, D.; Farmer, C.; Brooks, E.; Oddoux, C.; Riley, B.; Shajahan, S.; Camerino, G.; Homfray, T.; Crosby, A.; Couper, J.; David, A.; Greenfield, A.; et al.
2001Identification of a novel human tankyrase through its interaction with the adaptor protein Grb14Lyons, R.; Deane, R.; Lynch, D.; Ye, Z.; Sanderson, G.; Eyre, H.; Sutherland, G.; Daly, R.
1996Molecular cloning of the cDNA and chromosome localization of the gene for human ubiquitin-conjugating enzyme 9Wang, Z.; Qiu, Q.; Seufert, W.; Taguchi, T.; Testa, J.; Whitmore, S.; Callen, D.; Welsh, D.; Shenk, T.; Deuel, T.
2003Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do notGecz, J.; Shaw, M.; Bellon, J.; de Barros Lopes, M.
2003Family 39 a-L-iduronidases and b-D-xylosidases react through similar glycosyl-enzyme intermediates: Identification of the human iduronidase nucleophileNieman, C.; Wong, A.; He, S.; Clarke, L.; Hopwood, J.; Withers, S.
1998Molecular characterization, pharmacological properties and chromosomal localization of the human GALR2 galanin receptorFathi, Z.; Battaglino, P.; Iben, L.; Li, H.; Baker, E.; Zhang, D.; McGovern, R.; Mahle, C.; Sutherland, G.; Iismaa, T.; Dickinson, K.; Antal Zimanyi, I.
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.
2011Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disabilityMelko, M.; Douguet, D.; Bensaid, M.; Zongaro, S.; Verheggen, C.; Gecz, J.; Bardoni, B.