Pediatría
Departamento
Universidad de Chile
Santiago de Chile, ChilePublicaciones en colaboración con investigadoras/es de Universidad de Chile (4)
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
2006
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Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement
American Journal of Human Genetics, Vol. 79, Núm. 5, pp. 949-957