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Results 1-10 of 11 (Search time: 0.002 seconds).
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First PublishedTitleAuthor(s)Type
Mar-2007Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.Marini, JC; Forlino, A; Cabral, WA; Barnes, AM; San Antonio JD; Milgrom, S; Hyland, JC; Körkkö, J; Prockop, DJ; De Paepe A; Coucke, P; Symoens, S; Glorieux, FH; Roughley, PJ; Lund, AM; Kuurila-Svahn, K; Hartikka, H; Cohn, DH; Krakow, D; Mottes, M; Schwarze, U; Chen, D; Yang, K; Kuslich, C; Troendle, J; Dalgleish, R; Byers, PHJournal Article
Mar-2010The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards".Howard, HJ; Horaitis, O; Cotton, RG; Vihinen, M; Dalgleish, R; Robinson, P; Brookes, AJ; Axton, M; Hoffmann, R; Tuffery-Giraud, SJournal Article
Feb-2004Characterization of the human secreted phosphoprotein 24 gene (SPP2) and comparison of the protein sequence in nine species.Bennett, CS; Khorram Khorshid HR; Kitchen, JA; Arteta, D; Dalgleish, RJournal Article
Feb-2012Curating gene variant databases (LSDBs): toward a universal standard.Celli, J; Dalgleish, R; Vihinen, M; Taschner, PE; den Dunnen JTJournal Article
Feb-2012Guidelines for establishing locus specific databases.Vihinen, M; den Dunnen JT; Dalgleish, R; Cotton, RGJournal Article
1994Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.Mackay, K; De Paepe A; Nuytinck, L; Dalgleish, RJournal Article
1994A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.Rose, NJ; Mackay, K; Byers, PH; Dalgleish, RJournal Article
Apr-1988Discordant expression of the G syndrome in monozygotic twins.Young, ID; Dalgleish, R; MacKay, EH; MacFadyen, UMJournal Article
Sep-2011Clarity and claims in variation/mutation databasing.Dalgleish, R; Oetting, WS; Auerbach, AD; Beckmann, JS; Cambon-Thomsen, A; Devereau, A; Greenblatt, MS; Patrinos, GP; Taylor, GR; Vihinen, M; Brookes, AJJournal Article
Jul-2011WAVe: web analysis of the variome.Lopes, P; Dalgleish, R; Oliveira, JLJournal Article