Showing 1 - 9 results of 9 for search 'Hopton, S', query time: 0.02s
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Pathogenic intronic splice-affecting variants in MYBPC3 in three patients with hypertrophic cardiomyopathy by Wood, KA, Ellingford, JM, Eden, J, Thomas, HB, O'Keefe, RT, Hopton, C, Newman, WG
Published 2021Journal article -
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Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy by Naomi Warren, Andrew M Schaefer, Robert W Taylor, Emma L Blakely, Sila Hopton, Menatalla Elwan, Kate Craig, Gavin Falkous
Published 2022-08-01
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A Predictive Multimodal Framework to Alert Caregivers of Problem Behaviors for Children with ASD (PreMAC) by Zhaobo K. Zheng, John E. Staubitz, Amy S. Weitlauf, Johanna Staubitz, Marney Pollack, Lauren Shibley, Michelle Hopton, William Martin, Amy Swanson, Pablo Juárez, Zachary E. Warren, Nilanjan Sarkar
Published 2021-01-01
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Metabolic effects of bezafibrate in mitochondrial disease by Hannah Steele, Aurora Gomez‐Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery
Published 2020-03-01
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A deMoura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Published 2023-05-01
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Genomic investigations of unexplained acute hepatitis in children by Morfopoulou, S, Buddle, S, Torres Montaguth, OE, Atkinson, L, Guerra-Assunção, JA, Moradi Marjaneh, M, Zennezini Chiozzi, R, Storey, N, Campos, L, Hutchinson, JC, Counsell, JR, Pollara, G, Roy, S, Venturini, C, Antinao Diaz, JF, Siam, A, Tappouni, LJ, Asgarian, Z, Ng, J, Hanlon, KS, Lennon, A, McArdle, A, Czap, A, Rosenheim, J, Andrade, C, Anderson, G, Lee, JCD, Williams, R, Williams, CA, Tutill, H, Bayzid, N, Martin Bernal, LM, Macpherson, H, Montgomery, K-A, Moore, C, Templeton, K, Neill, C, Holden, M, Gunson, R, Shepherd, SJ, Shah, P, Cooray, S, Voice, M, Steele, M, Fink, C, Whittaker, TE, Santilli, G, Gissen, P, Kaufer, BB, Reich, J, Andreani, J, Simmonds, P, Paulus, SC, Pollard, AJ, Hopton, S, Miller, D, Oliver, Z, Beer, S, Ward, B, Lubinda, T, Kelly, S, O’Reilly, P, Kandasamy, R, Carter, MJ, O’Connor, D, Bibi, S, Kelly, DF, Carson, G, Merson, L
Published 2023Journal article