机译:用枫糖浆尿疾病将有针对性测序和NIPT临床实践的整合
Department of Obstetrics and Gynecology Chinese PLA General Hospital Beijing China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China Shenzhen Municipal Key Laboratory of Birth Defects Screening and;
Department of Obstetrics and Gynecology Chinese PLA General Hospital Beijing China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China Shenzhen Municipal Key Laboratory of Birth Defects Screening and;
BGI-Shenzhen Shenzhen China Shenzhen Municipal Key Laboratory of Birth Defects Screening and;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
China Clinical Lab of Beijing BGI-Health Beijing China;
Department of Obstetrics and Gynecology Chinese PLA General Hospital Beijing China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
China Clinical Lab of Beijing BGI-Health Beijing China;
China Clinical Lab of Beijing BGI-Health Beijing China;
China Clinical Lab of Beijing BGI-Health Beijing China;
BGI-Shenzhen Shenzhen China Shenzhen Municipal Key Laboratory of Birth Defects Screening and;
BGI-Shenzhen Shenzhen China China Clinical Lab of Shenzhen BGI-Health Shenzhen China;
BGI-Shenzhen Shenzhen China;
BGI-Shenzhen Shenzhen China Shenzhen Municipal Key Laboratory of Birth Defects Screening and;
Department of Obstetrics and Gynecology Chinese PLA General Hospital Beijing China;
massively parallel sequencing; MSUD; noninvasive prenatal testing; single-gene disorders; target-gene capture;
机译:将靶向测序和NIPT纳入中国枫糖尿症家庭的临床实践
机译:用临床外壳测序发现了典型枫糖浆尿疾病的新型体变种的致病作用的硅预测
机译:五种中国枫糖浆尿液疾病患者的临床特征及突变分析
机译:在临床医学实验室中通过外显子组测序建立与基因有关的罕见病报告格式
机译:支链氨基酸代谢:健康成年男性和枫糖浆尿病患者的需求。
机译:枫糖浆尿病。该支链α-酮酸脱氢酶复合物的E1β亚基的完全缺陷是由于该疾病家族中编码线粒体靶向前导肽的11 bp重复序列的缺失所致。
机译:枫糖浆尿病。支链α-酮酸脱氢酶复合物的E1β亚基的完全缺陷,是由于该疾病家族中编码线粒体靶向前导肽的11 bp重复序列的缺失所致。
机译:msUD(枫糖浆尿病)和有机酸尿症的饮食疗法