Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
全外显子组测序对诊断历程接近尾声的患者的意义:是时候弥补护理方面的不足了
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.12654
Sawyer, S L; Hartley, T; Dyment, D A; Beaulieu, C L; Schwartzentruber, J; Smith, A; Bedford, H M; Bernard, G; Bernier, F P; Brais, B; Bulman, D E; Warman Chardon, J; Chitayat, D; Deladoëy, J; Fernandez, B A; Frosk, P; Geraghty, M T; Gerull, B; Gibson, W; Gow, R M; Graham, G E; Green, J S; Heon, E; Horvath, G; Innes, A M; Jabado, N; Kim, R H; Koenekoop, R K; Khan, A; Lehmann, O J; Mendoza-Londono, R; Michaud, J L; Nikkel, S M; Penney, L S; Polychronakos, C; Richer, J; Rouleau, G A; Samuels, M E; Siu, V M; Suchowersky, O; Tarnopolsky, M A; Yoon, G; Zahir, F R; Majewski, J; Boycott, K M