Showing 1 - 11 results of 11 for search 'Raimondo, A', query time: 0.03s
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Reclassification of diabetes aetiology in a family with multiple diabetes phenotypes by Kavvoura, F, Raimondo, A, Thanabalasingham, G, Barrett, A, Webster, A, Mann, N, Ellard, S, Gloyn, A, Owen, K
Published 2013Conference item -
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Reclassification of diabetes etiology in a family with multiple diabetes phenotypes. by Kavvoura, F, Raimondo, A, Thanabalasingham, G, Barrett, A, Webster, A, Shears, D, Mann, N, Ellard, S, Gloyn, A, Owen, K
Published 2014Journal article -
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The phenotypic severity of homozygous GCK mutations causing neonatal or adolescent-onset diabetes is mediated through thermostability in addition to enzyme activity by Chakera, A, Raimondo, A, Homsen, S, Colclough, K, Barrett, A, De-Franco, E, Chatelas, A, van de Bunt, M, Flanagan, SE, Hattersley, A, Ellard, S, Gloyn, A
Published 2014Journal article -
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Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families. by Rees, MG, Raimondo, A, Wang, J, Ban, MR, Davis, M, Barrett, A, Ranft, J, Jagdhuhn, D, Waterstradt, R, Baltrusch, S, Simeonov, A, Collins, F, Hegele, R, Gloyn, A
Published 2014Journal article -
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Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. by Raimondo, A, Chakera, A, Thomsen, S, Colclough, K, Barrett, A, De Franco, E, Chatelas, A, Demirbilek, H, Akcay, T, Alawneh, H, Flanagan, SE, Van De Bunt, M, Hattersley, A, Gloyn, A, Ellard, S
Published 2014Journal article -
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Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis... by Beer, N, Osbak, K, van de Bunt, M, Tribble, N, Steele, A, Wensley, K, Edghill, E, Colcough, K, Barrett, A, Valentínová, L, Rundle, J, Raimondo, A, Grimsby, J, Ellard, S, Gloyn, A
Published 2012Journal article -
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Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic beta cells by Thomsen, S, Raimondo, A, Hastoy, B, Sengupta, S, Dai, X, Bautista, A, Censin, J, Payne, A, Umapathysivam, M, Spigelman, A, Barrett, A, Groves, C, Beer, N, Manning Fox, J, McCarthy, M, Clark, A, Mahajan, A, Rorsman, O, MacDonald, P, Gloyn, A
Published 2018Journal article -
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Genetic fine-mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci by Gaulton, KJ, Ferreira, T, Lee, Y, Raimondo, A, Mägi, R, Mahajan, A, Rayner, N, Morris, A, Thomsen, S, van de Bunt, M, Beer, N, Gloyn, A, Lindgren, C, Robertson, N, Trakalo, J, Wiltshire, S, Ingelsson, E, Donnelly, P, Rundle, J, Groves, C, Owen, K, Reschen, M, Chalisey, A, O'Callaghan, C, McCarthy, M, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM)
Published 2015Journal article