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Application of next generation sequencing in the screening of monogenic diseases in China,2021:a consensus among Chinese newborn screening experts

摘要Newborn screening(NBS)refers to a maternal and newborn healthcare technology,in which special examinations of congenital and genetic diseases that could seriously impact the health of newborns,are implemented during the neo-natal period to provide early diagnosis and treatment[1].

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作者单位 Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,3333 Binsheng Road,Binjiang District,Hangzhou 310052,China [1] Shanghai Children's Medical Center,Shanghai Jiaotong University School of Medicine,Shanghai,China [2] National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention,Screening and Diagnostic R and D Center,Hangzhou,China [3] Center for Molecular Medicine,Children's Hospital of Fudan University,399 Wan Yuan Road,Min Xing District,Shanghai 200000,China [4] National Health Commission Key Laboratory for Birth Defect Research and Prevention,Maternal and Child Health Hospital of Hunan Province,Changsha,China [5] Jinan Maternity and Child Care Hospital Affiliated To Shandong First Medical University,Jinan,China [6] Xinhua Hospital,Shanghai Institute for Pediatric Research,Shanghai Jiao Tong University School of Medicine,Shanghai,China [7] Clinical Genetic Center,Children's Hospital of Fudan University,Shanghai,China [8] Children's Hospital,Shanghai Jiaotong University,Shanghai,China [9] Neonatal Center,Beijing Children's Hospital,Capital Medical University,Beijing,China [10] Affiliated Shenzhen Maternity and Child Healthcare Hospital,Southern Medical University,Shenzhen,China [11] Xinhua Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai,China [12] Peking University First Hospital,Beijing,China [13] Guangzhou Women and Children's Medical Center,Guangzhou,China [14] Center of Genetic Medicine,Women's Hospital of Nanjing Medical University,Nanjing Maternity and Child Health Care Hospital,Nanjing,China [15]
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发布时间 2022-05-19(万方平台首次上网日期,不代表论文的发表时间)
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世界儿科杂志(英文版)

世界儿科杂志(英文版)

2022年18卷4期

235-242页

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