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Updated: Jan 29, 2026

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
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超音波検査 (PAGE) によって検出された胎児の構造的異常における産前エクソーム配列分析:コホート研究

Jenny Lord1, Dominic J McMullan2, Ruth Y Eberhardt1

  • 1Wellcome Sanger Institute, Hinxton, UK.

Lancet (London, England)
|February 5, 2019
PubMed
まとめ

全エクソームシーケンシング (WES) は,構造的異常を持つ胎児の8.5%で診断遺伝的変異を特定し,症候群と非症候群の区別を助けました. この遺伝子検査は 産前診断を改善しますが 臨床的有用性を最大化するために 慎重に症例を選択する必要があります

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