The rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service
罕见病和未确诊疾病诊断服务——大规模并行测序在全州临床服务中的应用
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-016-0462-7
Baynam, Gareth; Pachter, Nicholas; McKenzie, Fiona; Townshend, Sharon; Slee, Jennie; Kiraly-Borri, Cathy; Vasudevan, Anand; Hawkins, Anne; Broley, Stephanie; Schofield, Lyn; Verhoef, Hedwig; Walker, Caroline E; Molster, Caron; Blackwell, Jenefer M; Jamieson, Sarra; Tang, Dave; Lassmann, Timo; Mina, Kym; Beilby, John; Davis, Mark; Laing, Nigel; Murphy, Lesley; Weeramanthri, Tarun; Dawkins, Hugh; Goldblatt, Jack