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Updated: May 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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通过三重临床外体测序进行产前诊断:单一中心经验

Katia Margiotti1, Marco Fabiani1, Antonella Cima1

  • 1Human Genetics Lab, Altamedica Main Centre, Viale Liegi 45, 00198 Rome, Italy.

Current issues in molecular biology
|April 26, 2024
PubMed
概括

临床外体序列测序 (CES) 识别了染色体微阵列分析错过的胎儿异常的遗传原因. 三种CES对于产前诊断至关重要,检测出新的和遗传性致病变体.

关键词:
染色体微阵列分析分析临床外基因组测序 临床外基因组测序胎儿的异常情况.在产前诊断 产前诊断

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Acute Coronary Syndrome III: Diagnostic Studies01:30

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Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...