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

• Príomhchruthaitheoirí: Ruiping Zhang (Údar), Xiaoyu Cui (Údar), Yan Zhang (Údar), Huiqing Ma (Údar), Jing Gao (Údar), Ying Zhang (Údar), Jianbo Shu (Údar), Chunquan Cai (Údar), Yang Liu (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2024-05-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract 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. Thi...