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Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study

22 May 2024

Abstract excerpt

BACKGROUND: Genetic disorders significantly affect patients in neonatal intensive care units, where establishing a diagnosis can be challenging through routine tests and supplementary examinations. Whole-exome sequencing offers a molecular-based approach for diagnosing genetic disorders. This study aimed to assess the importance of whole-exome sequencing for neonates in intensive care through a retrospective...

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PMID: 38778310
DOI: 10.1186/s12887-024-04820-0

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