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Results 31-40 of 45 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
1995Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23Taske, N.; Eyre, H.; O'Brien, R.; Sutherland, G.; Denborough, M.; Foster, P.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2003Novel PHF6 mutation p.D333del causes Borjeson-Forssman-Lehmann syndromeBaumstark, A.; Lower, K.; Sinkus, A.; Andriuskeveviciute, I.; Jurkeniene, L.; Gecz, J.; Just, W.
1996Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B)Weber, B.; Blanch, L.; Clements, P.; Scott, H.; Hopwood, J.
1996Characterization and chromosomal localization of the human A2a adenosine receptor gene - ADORA2ALe, F.; Townsend-Nicholson, A.; Baker, E.; Sutherland, G.; Schofield, P.
1995Bovine latent transforming growth factor β1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrilsGibson, M.; Hatzinikolas, G.; Davis, E.; Baker, E.; Sutherland, G.; Mecham, R.
1999GPR56, a novel secretin-like human G-protein-coupled receptor geneLiu, M.; Parker, R.; Darby, K.; Eyre, H.; Copeland, N.; Crawford, J.; Gilbert, D.; Sutherland, G.; Jenkins, N.; Herzog, H.
1996Cloning of human lymphocyte-specific interferon regulatory factor (hLSIRF/hIRF4) and mapping of the gene to 6p23-p25Grossman, A.; Mittrucker, H.W.; Nicholl, J.; Suzuki, A.; Chung, S.; Antonio, L.; Suggs, S.; Sutherland, G.; Siderovski, D.; Mak, T.
1999Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3Savino, M.; d'Apolito, M.; Centra, M.; van Beerendonk, H.; Cleton-Jansen, A.M.; Whitmore, S.; Crawford, J.; Callen, D.; Zelante, L.; Savoia, A.