Next-Generation Sequencing in Newborn Screening: A Review of Current State.

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作者： Ziga I,Remec ^[1] ; Katarina,Trebusak Podkrajsek ^[1] ; Barbka,Repic Lampret ^[2] ; Jernej,Kovac ^[1] ; Urh,Groselj ^[1] ; Tine,Tesovnik ^[3] ; Tadej,Battelino ^[4] ; Marusa,Debeljak ^[1]

作者单位： Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[1] Faculty of Medicine, Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Ljubljana, Slovenia. ^[2] Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[3] Chair of Pediatrics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. ^[4]

关键词 DNA sequencing NBS NGS expanded NBS program high-throughput sequencing neonatal screening newborn screening next generation sequencing

DOI 10.3389/fgene.2021.662254

PMID 34122514

发布时间 2023-09-20

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Frontiers in genetics

2021年12卷

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Next-Generation Sequencing in Newborn Screening: A Review of Current State.

Frontiers in genetics

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Next-Generation Sequencing in Newborn Screening: A Review of Current State.

Frontiers in genetics

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Frontiers in genetics

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