A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China

BACKGROUND: Newborn screening (NBS) is an important and successful public health program that helps improve the long-term clinical outcomes of newborns by providing early diagnosis and treatment of certain inborn diseases. The development of next-generation sequencing (NGS) technology provides new o...

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Detalles Bibliográficos
Autores principales: Yang, Ru-Lai, Qian, Gu-Ling, Wu, Ding-Wen, Miao, Jing-Kun, Yang, Xue, Wu, Ben-Qing, Yan, Ya-Qiong, Li, Hai-Bo, Mao, Xin-Mei, He, Jun, Shen, Huan, Zou, Hui, Xue, Shu-Yuan, Li, Xiao-Ze, Niu, Ting-Ting, Xiao, Rui, Zhao, Zheng-Yan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258179/
https://www.ncbi.nlm.nih.gov/pubmed/36847978
http://dx.doi.org/10.1007/s12519-022-00670-x

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