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Title: A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
Authors: Ru-Lai, Yang
Gu-Ling, Qian
Ding-Wen, Wu
Issue Date: 2023
Publisher: Springer
Abstract: 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 opportunities to expand current newborn screening methodologies.
Description: CC BY
URI: https://link.springer.com/article/10.1007/s12519-022-00670-x
https://dlib.phenikaa-uni.edu.vn/handle/PNK/7004
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