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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates

BACKGROUND: Newborn screening (NBS) has been implemented for neonatal inborn disorders using various technology platforms, but false-positive and false-negative results are still common. In addition, target diseases of NBS are limited by suitable biomarkers. Here we sought to assess the feasibility...

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Detalles Bibliográficos
Autores principales:	Huang, Xinwen, Wu, Dingwen, Zhu, Lin, Wang, Wenjun, Yang, Rulai, Yang, Jianbin, He, Qunyan, Zhu, Bingquan, You, Ying, Xiao, Rui, Zhao, Zhengyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8862216/ https://www.ncbi.nlm.nih.gov/pubmed/35193651 http://dx.doi.org/10.1186/s13023-022-02231-x

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