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Updated: Jul 12, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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[基因组板对患有复杂遗传疾病的患者的临床实用性]

Eva B Hammar1, Marc Abramowicz2,3

  • 1Dre sci. (PhD), Service de médecine génétique, Département diagnostique, Hôpitaux universitaires de Genève, 1211 Genève 14.

Revue medicale suisse
|November 1, 2023
PubMed
概括

多学科基因组委员会通过整合医疗和遗传数据来改善罕见疾病的诊断. 这种协作方法提高了具有具有挑战性遗传发现的复杂病例的诊断率.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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