Showing 1 - 7 results of 7 for search 'Buchan, R', query time: 0.03s
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes by Walsh, R, Buchan, R, Wilk, A, John, S, Felkin, L, Thomson, K, Chiaw, T, Loong, C, Pua, C, Raphael, C, Prasad, S, Barton, P, Funke, B, Watkins, H, Ware, J, Cook, S
Published 2017Journal article -
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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield by Thomson, K, Ormondroyd, E, Harper, A, Dent, T, McGuire, K, Baksi, J, Blair, E, Brennan, P, Buchan, R, Bueser, T, Campbell, C, Carr-White, G, Cook, S, Daniels, M, Deevi, S, Goodship, J, Hayesmoore, J, Henderson, A, Lamb, T, Prasad, S, Rayner-Matthews, P, Robert, L, Sneddon, L, Stark, H, Walsh, R, Ware, J, Farrall, M, Watkins, H, Nihr Bioresource – Rare Diseases Consortium
Published 2018Journal article -
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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy by Walsh, R, Mazzarotto, F, Whiffin, N, Buchan, R, Midwinter, W, Wilk, A, Li, N, Felkin, L, Ingold, N, Govind, R, Ahmad, M, Mazaika, E, Allouba, M, Zhang, X, De Marvao, A, Day, SM, Ashley, E, Colan, SD, Michels, M, Pereira, AC, Jacoby, D, Ho, CY, Thomson, KL, Watkins, H, Barton, PJR, Olivotto, I, Cook, SA, Ware, JS
Published 2019Journal article -
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Repeated nebulisation of non-viral CFTR gene therapy in patients with cystic fibrosis: a randomised, double-blind, placebo-controlled, phase 2b trial by Alton, EWFW, Armstrong, DK, Ashby, D, Bayfield, K, Bilton, D, Bloomfield, E, Boyd, A, Brand, J, Buchan, R, Calcedo, R, Carvelli, P, Chan, M, Cheng, S, Collie, D, Cunningham, S, Davidson, H, Davies, G, Davies, J, Davies, L, Dewar, M, Doherty, A, Donovan, J, Dwyer, N, Elgmati, H, Featherstone, R, Gavino, J, Gea-Sorli, S, Geddes, D, Gibson, J, Gill, D, Greening, A, Griesenbach, U, Hansell, D, Harman, K, Higgins, T, Hodges, S, Hyde, S, Hyndman, L, Innes, J, Jacob, J, Jones, S, Keogh, B, Limberis, M, Lloyd-Evans, P, Maclean, A, Manvell, M, McCormick, D, McGovern, M, McLachlan, G, Meng, C, Montero, M, Milligan, H, Moyce, L, Murray, G, Nicholson, A, Osadolor, T, Parra-Leiton, J, Porteous, D, Pringle, I, Punch, E, Pytel, K, Quittner, A, Rivellini, G, Saunders, C, Scheule, R, Sheard, S, Simmonds, N, Smith, K, Smith, S, Soussi, N, Soussi, S, Spearing, E, Stevenson, B, Sumner-Jones, S, Turkkila, M, Ureta, R, Waller, M, Wasowicz, M, Wilson, J, Wolstenholme-Hogg, P
Published 2015Journal article -
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A randomised, double-blind, placebo-controlled trial of repeated nebulisation of non-viral cystic fibrosis transmembrane conductance regulator (CFTR) gene therapy in patients with... by Alton, EWFW, Armstrong, DK, Ashby, D, Bayfield, KJ, Bilton, D, Bloomfield, EV, Boyd, AC, Brand, J, Buchan, R, Calcedo, R, Carvelli, P, Chan, M, Cheng, SH, Collie, DS, Cunningham, S, Davidson, HE, Davies, G, Davies, JC, Davies, LA, Dewar, MH, Doherty, A, Donovan, J, Dwyer, NS, Elgmati, HI, Featherstone, RF, Gavino, J, Gea-Sorli, S, Geddes, DM, Gibson, JSR, Gill, DR, Greening, AP, Griesenbach, U, Hansell, DM, Harman, K, Higgins, TE, Hodges, SL, Hyde, SC, Hyndman, L, Innes, JA, Jacob, J, Jones, N, Keogh, BF, Limberis, MP, Lloyd-Evans, P, Maclean, AW, Manvell, MC, McCormick, D, McGovern, M, McLachlan, G, Meng, C, Montero, MA, Milligan, H, Moyce, LJ, Murray, GD, Nicholson, AG, Osadolor, T, Parra-Leiton, J, Porteous, DJ, Pringle, IA, Punch, EK, Pytel, KM, Quittner, AL, Rivellini, G, Saunders, CJ, Scheule, RK, Sheard, S, Simmonds, NJ, Smith, K, Smith, SN, Soussi, N, Soussi, S, Spearing, EJ, Stevenson, BJ, Sumner-Jones, SG, Turkkila, M, Ureta, RP, Waller, MD, Wasowicz, MY, Wilson, JM, Wolstenholme-Hogg, P, UK Cystic Fibrosis Gene Therapy Consortium
Published 2016Journal article