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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy

Gea Kiewiet,Dineke Westra,Eddy N. de Boer,Emma van Berkel,Tom G. J. Hofste, Martine van Zweeden,Ronny C. Derks,Nico F. A. Leijsten,Martina H. A. Ruiterkamp-Versteeg,Bart Charbon,Lennart Johansson, Janneke Bos-Kruizinga, Inge J. Veenstra, Monique G. M. de van der Velden,Els Voorhoeve,M. Rebecca Heiner-Fokkema,Francjan van Spronsen,Birgit Sikkema-Raddatz,Marcel Nelen

INTERNATIONAL JOURNAL OF NEONATAL SCREENING（2024）

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关键词
newborn screening,next-generation sequencing,inherited metabolic disorder,dried blood spots
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