Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
对大量出生前或出生时即患有神经肌肉疾病的患者进行下一代测序
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-015-0364-0
Todd, Emily J; Yau, Kyle S; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher P; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel F; Freckmann, Mary-Louise; Romero, Norma B; Williams, Denise; Sewry, Caroline A; Colley, Alison; Ryan, Monique M; Kiraly-Borri, Cathy; Sivadorai, Padma; Allcock, Richard J N; Beeson, David; Maxwell, Susan; Davis, Mark R; Laing, Nigel G; Ravenscroft, Gianina
