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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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Whole genome sequencing for the investigation of rare anaemias: challenges and real-world outcomes by Brierley, C, Babbs, C, McGowan, S, Downes, D, Sanchis-Juan, A, Aydinok, Y, Thakur, I, Connor, P, Tedgard, U, Bechensteen, A, Harvet, G, De La Fuente, J, Mettananda, S, Hendricks, M, Carey, P, Lausen, B, Ancliff, P, Qureshi, A, Louka, E, Okoli, S, Psaila, B, O'Sullivan, J, Mead, A, Mapeta, R, Megy, K, Ouwehand, W, Turro, E, Roberts, I, Layton, M, Roy, N
Published 2019Conference item