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Results 11-20 of 35 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2010Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeGecz, J.
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.
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.
2000Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cellsRied, K.; Finnis, M.; Hobson, L.; Mangelsdorf, M.; Dayan, S.; Nancarrow, J.; Woollatt, E.; Kremmidiotis, G.; Gardner, A.; Venter, D.; Baker, E.; Richards, R.
2003Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 geneDavis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al.
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.