Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, Sarah A. Sandaradura et autres
157 citationsNature Medicine
Dean Phelan
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47Publications signalées
2271Citations signalées
3Affiliations récentes
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Domaines associés
Genomics and Rare DiseasesCardiomyopathy and Myosin StudiesGenomic variations and chromosomal abnormalitiesCongenital heart defects researchRNA modifications and cancer
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