Diagnostic value of exome and whole genome sequencing in craniosynostosis
Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der Spek, Peter J; Lord, Helen; Lester, Tracy; Abid, Noina; Cilliers, Deirdre; Hurst, Jane A; Morton, Jenny E V; Sweeney, Elizabeth; Weber, Astrid; Wilson, Louise C; Wilkie, Andrew O M
- 期刊名称Journal of Medical Genetics
- 作者Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der Spek, Peter J; Lord, Helen; Lester, Tracy; Abid, Noina; Cilliers, Deirdre; Hurst, Jane A; Morton, Jenny E V; Sweeney, Elizabeth; Weber, Astrid; Wilson, Louise C; Wilkie, Andrew O M
- 卷第54卷
- 期第4期
- 印刷ISSN0022-2593
- 电子ISSN1468-6244
- 文件大小539.32KB
- 发表时间2017-04
- DOI10.1136/jmedgenet-2016-104215
- 页码260-268