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

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Bibliographic Details
Main Authors: Ru-Lai, Yang, Gu-Ling, Qian, Ding-Wen, Wu
Format: Book
Language:English
Published: Springer 2023
Subjects:
Newborn screening
next-generation sequencing
Online Access:https://link.springer.com/article/10.1007/s12519-022-00670-x
https://dlib.phenikaa-uni.edu.vn/handle/PNK/7004
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spelling oai:localhost:PNK-70042023-03-21T01:29:28Z A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China Ru-Lai, Yang Gu-Ling, Qian Ding-Wen, Wu Newborn screening next-generation sequencing CC BY 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. 2023-03-21T01:29:28Z 2023-03-21T01:29:28Z 2023 Book https://link.springer.com/article/10.1007/s12519-022-00670-x https://dlib.phenikaa-uni.edu.vn/handle/PNK/7004 en application/pdf Springer
institution Digital Phenikaa
collection Digital Phenikaa
language English
topic Newborn screening
next-generation sequencing
spellingShingle Newborn screening
next-generation sequencing
Ru-Lai, Yang
Gu-Ling, Qian
Ding-Wen, Wu
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
description CC BY
format Book
author Ru-Lai, Yang
Gu-Ling, Qian
Ding-Wen, Wu
author_facet Ru-Lai, Yang
Gu-Ling, Qian
Ding-Wen, Wu
author_sort Ru-Lai, Yang
title A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
title_short A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
title_full A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
title_fullStr A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
title_full_unstemmed A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
title_sort multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in china
publisher Springer
publishDate 2023
url https://link.springer.com/article/10.1007/s12519-022-00670-x
https://dlib.phenikaa-uni.edu.vn/handle/PNK/7004
_version_ 1761006542393442304
score 8.891145

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