Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses
单基因疾病的普遍植入前遗传学检测(核型分析):可诊断超过1000种独特的疾病,且未发现误诊。
期刊:Human Reproduction
影响因子:
doi:10.1093/humrep/deaf198
Schadwell, Alessia; Whiting, Olivia; Xanthopoulou, Leoni; Colls, Pere; Bakosi, Evangelia; Goodall, N-Neka; Ribustello, Lia; Ellis, Peter; Gordon, Tony; Griffin, Darren K