Showing 1 - 11 results of 11 for search 'Proven, M', query time: 0.03s
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A novel deletion in the RPL5 gene in a Lebanese child with diamond blackfan anemia unresponsive to steroid treatment by Farah, R, Kamel, L, Roy, N, Proven, M, Wray, K, Roberts, I, Wlodarski, M
Published 2019Journal article -
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Glucophosphate isomerase deficiency identified by next‐generation sequencing by Vora, S, Proven, M, Hipkiss, R, Ware, P, Howard, K, Dreau, H, Baird, S, Ouwehand, W, Megy, K, Stirrups, K, Lim, D, Norton, A, Kumar, A, Roberts, I, Layton, M, Roy, N
Published 2019Conference item -
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RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation by Martell, DJ, Merens, HE, Fiorini, C, Caulier, A, Ulirsch, JC, Ietswaart, R, Choquet, K, Graziadei, G, Brancaleoni, V, Cappellini, MD, Scott, C, Roberts, N, Proven, M, Roy, NB, Babbs, C, Higgs, DR, Sankaran, VG, Churchman, LS
Published 2023Internet publication -
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RNA polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. by Martell, DJ, Merens, HE, Caulier, A, Fiorini, C, Ulirsch, JC, Ietswaart, R, Choquet, K, Graziadei, G, Brancaleoni, V, Cappellini, MD, Scott, C, Roberts, N, Proven, M, Roy, NBA, Babbs, C, Higgs, DR, Sankaran, VG, Churchman, LS
Published 2023Journal article -
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Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias by Roy, N, Proven, M, Roberts, I, Tamary, H, Swinkels, D, Patricia, A, Bianchi, P, Colombatti, R, Russo, R, Clark, B, Sanchez, M, Del Orbe Barreto, R, Fermo, E, Viprakasit, V, Korchuenjit, J, Maia, T, Smith, F, Del Mar Manu, M, Da Costa, L, Marzollo, A, Hozdelarastrollo, A, Arrizabalaga, B, Barbara, D, Iolascon, A
Published 2018Conference item -
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A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias. by Roy, N, Wilson, E, Henderson, S, Wray, K, Babbs, C, Okoli, S, Atoyebi, W, Mixon, A, Cahill, M, Carey, P, Cullis, J, Curtin, J, Dreau, H, Ferguson, D, Gibson, B, Hall, G, Mason, J, Morgan, M, Proven, M, Qureshi, A, Sanchez Garcia, J, Sirachainan, N, Teo, J, Tedgård, U, Higgs, D, Roberts, D, Roberts, I, Schuh, A
Published 2016Journal article -
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. by Akimoto, C, Volk, A, van Blitterswijk, M, Van den Broeck, M, Leblond, C, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, van der Zee, J, Alstermark, H, Birve, A, Calini, D, Nordin, A, Tradowsky, D, Just, W
Published 2014Journal article -
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Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias by Roy, N, Proven, M, Roberts, I, Tamary, H, Swinkels, D, Patricia, A-M, Bianchi, P, Colombatti, R, Russo, R, Clark, B, Del Mar Manu, M, Sanchez, M, Del Orbe Barreto, RA, Fermo, E, Viprakasit, V, Korchuenjit, J, Maia, T, Smith, F, Da Costa, L, Marzollo, A, De La Hoz, AB, Arrizabalaga, B, Delasalle, B, Iolascon, A
Published 2019Conference item -
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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories by Akimoto, C, Volk, A, van Blitterswijk, M, Van den Broeck, M, Van den Broeck, M, Leblond, C, Lumbroso, S, Camu, W, Neitzel, B, Onodera, O, van Rheenen, W, Pinto, S, Weber, M, Smith, B, Proven, M, Talbot, K, Keagle, P, Chesi, A, Ratti, A, Ratti, A, van der Zee, J, van der Zee, J, Alstermark, H, Birve, A, Calini, D
Published 2014Journal article -
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Genetic and functional insights into CDA-I prevalence and pathogenesis by Olijnik, A-A, Scott, C, Roy, NB, Marsh, JA, Brown, J, Laushke, K, Ask, K, Roberts, N, Downes, DJ, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Johan, M, Stattin, E-LM, Sadasivam, N, McIlwaine, L, Hill, QA, Renella, R, Hughes, JR, Gibbons, RJ, Groth, A, McHugh, PJ, Higgs, DR, Buckle, VJ, Babbs, C
Published 2020Journal article