机译:下一代深度测序校正在具有POPPE疾病的产前发作的患者中传统分子方法的诊断缺陷
Department of Molecular and Medical GeneticsOregon Health and Sciences University‐OHSUPortland;
Department of Molecular and Medical GeneticsOregon Health and Sciences University‐OHSUPortland;
Department of Molecular and Medical GeneticsOregon Health and Sciences University‐OHSUPortland;
Department of Molecular and Medical GeneticsOregon Health and Sciences University‐OHSUPortland;
Ambry GeneticsAliso Viejo California;
Department of Molecular and Human GeneticsBaylor College of MedicineHouston Texas;
allele drop‐out; next generation deep sequencing; partial exonic deletion; Pompe disease;
机译:下一代深度测序校正在具有POPPE疾病的产前发作的患者中传统分子方法的诊断缺陷
机译:下一代迟发性庞氏病的序列检测
机译:酸性磷酸酶阳性球状包裹体是两名成人疾病缺乏特定病理的庞贝病患者的良好诊断标志
机译:Gaa的下一代测序的微流体PCR扩增以检测引起群众疾病的突变
机译:患儿特异性iPS细胞的小儿发作性庞贝病的骨骼肌模型
机译:通过下一代测序诊断迟发性庞贝氏病和其他肌肉疾病
机译:通过下一代测序诊断迟发性庞贝氏病和其他肌肉疾病