A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China
CC BY
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| Định dạng: | Sách |
| Ngôn ngữ: | English |
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Springer
2023
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| Truy cập trực tuyến: | https://link.springer.com/article/10.1007/s12519-022-00670-x https://dlib.phenikaa-uni.edu.vn/handle/PNK/7004 |
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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 |