PEDIATRIA
Universidad de Chile
Santiago de Chile, ChileUniversidad de Chile-ko ikertzaileekin lankidetzan egindako argitalpenak (3)
2023
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ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome medicine, Vol. 15, Núm. 1, pp. 68
2022
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Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology, Vol. 98, Núm. 9, pp. E912-E923
2019
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Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy
Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303