Showing 1 - 20 results of 45 for search 'Broxholme, J', query time: 0.10s
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1
GREVE: Genomic Recurrent Event ViEwer to assist the identification of patterns across individual cancer samples. by Cazier, J, Holmes, C, Broxholme, J
Published 2012Journal article -
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GLIDERS - A web-based search engine for genome-wide linkage disequilibrium between HapMap SNPs by Lawrence, R, Day-Williams, A, Mott, R, Broxholme, J, Cardon, L, Zeggini, E
Published 2009Journal article -
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Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing by Reid, S, Woodley, J, Kaur, K, Thomson, K, Broxholme, J, Taylor, J, Blair, E, Taylor, J, Watkins, H
Published 2011Conference item -
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LD mapping of maternally and non-maternally derived alleles and atopy in FcepsilonRI-beta. by Traherne, J, Hill, MR, Hysi, P, D'Amato, M, Broxholme, J, Mott, R, Moffatt, M, Cookson, W
Published 2003Journal article -
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Pervasive haplotypic variation in the spliceo-transcriptome of the human major histocompatibility complex. by Vandiedonck, C, Taylor, MS, Lockstone, H, Plant, K, Taylor, J, Durrant, C, Broxholme, J, Fairfax, B, Knight, J
Published 2011Journal article -
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A high-throughput cell culture model of idiopathic pulmonary fibrosis (IPF) for gene therapy applications by Cerezuela, MP, Munis, AM, Du, Y, Chahrour, C, Lockstone, H, Broxholme, J, Wright, B, Hyde, SC, Gill, D
Published 2022Conference item -
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MAPPING THE NON-B27 MHC ASSOCIATIONS OF ANKYLOSING SPONDYLITIS (AS) by Sims, A, Bernardo, M, Broxholme, J, Herzberg, I, Bradbury, L, Callin, A, Wordsworth, B, Darke, C, Brown, M
Published 2004Journal article -
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Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogen... by Blair, E, Redwood, C, Ashrafian, H, Oliveira, M, Broxholme, J, Kerr, B, Salmon, A, Ostman-Smith, I, Watkins, H
Published 2001Journal article -
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Mutations in the gamma2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenes... by Blair, E, Redwood, C, Ashrafian, H, Oliveira, M, Broxholme, J, Kerr, B, Salmon, A, Ostman-Smith, I, Watkins, H
Published 2001Journal article -
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The use of genome-wide eQTL associations to identify novel genetic pathways involved in complex traits by Min, J, Taylor, J, Richards, J, Watts, T, Broxholme, J, Pettersson, F, Ahmadi, K, Ragoussis, I, Morris, A, Spector, T, Cardon, L, Zondervan, K
Published 2008Conference item -
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Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome. by Bihoreau, M, Megel, N, Brown, J, Kränzlin, B, Crombez, L, Tychinskaya, Y, Broxholme, J, Kratz, S, Bergmann, V, Hoffman, S, Gauguier, D, Gretz, N
Published 2002Journal article -
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Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. by Lamb, J, Barnby, G, Bonora, E, Sykes, N, Bacchelli, E, Blasi, F, Maestrini, E, Broxholme, J, Tzenova, J, Weeks, D, Bailey, A, Monaco, A
Published 2005Journal article -
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Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ANKH. by Williams, C, Zhang, Y, Timms, A, Bonavita, G, Caeiro, F, Broxholme, J, Marchegiani, R, Reginato, A, Russell, R, Wordsworth, B, Carr, A, Brown, M
Published 2002Conference item -
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miR-3156-5p is downregulated in serum of MEN1 patients and regulates expression of MORF4L2 by Kooblall, KG, Stokes, VJ, Shariq, OA, English, KA, Stevenson, M, Broxholme, J, Wright, B, Lockstone, HE, Buck, D, Grozinsky-Glasberg, S, Yates, CJ, Thakker, RV, Lines, K
Published 2022Journal article -
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Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is caused by mutation in the transmembrane protein ank. by Williams, C, Zhan, Y, Timms, A, Bonavita, G, Caeiro, F, Broxholme, J, Cuthbertson, J, Jones, Y, Marchegiani, R, Reginato, A, Russell, G, Wordsworth, P, Carr, A, Brown, M
Published 2002Conference item -
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Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. by Williams, C, Zhang, Y, Timms, A, Bonavita, G, Caeiro, F, Broxholme, J, Cuthbertson, J, Jones, Y, Marchegiani, R, Reginato, A, Russell, R, Wordsworth, B, Carr, A, Brown, M
Published 2002Journal article -
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Correction: host genetic factors and vaccine-induced immunity to hepatitis B virus infection. by Hennig, B, Fielding, K, Broxholme, J, Diatta, M, Mendy, M, Moore, C, Pollard, A, Rayco-Solon, P, Sirugo, G, , v, Waight, P, Whittle, H, Zaman, S, Hill, A, Hall, A
Published 2011Journal article -
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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. by Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A
Published 2013Journal article