Suchergebnisse - "Carta, Maria Giulia"

PubPharm (4)

1

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project

enthalten in: Human genomics | 2024

von Stenton, S. | O’Leary, M. | Lemire, G. | +71

2

Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing

enthalten in: The Journal of molecular diagnostics : JMD | 2024

von Schlieben, L. | Carta, M. | Moskalev, E. | +12

3

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

enthalten in: bioRxiv.org | 2023

von Stenton, S. | O’Leary, M. | Lemire, G. | +71

4

Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

enthalten in: medRxiv : the preprint server for health sciences | 2023

von Stenton, S. | O'Leary, M. | Lemire, G. | +71

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