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1.
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Pharmacogenomics J
; 22(4): 223-229, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35436997
2.
Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections.
Open Forum Infect Dis
; 8(6): ofab104, 2021 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-34104666
3.
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Mol Syndromol
; 11(5-6): 320-329, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33510604
4.
Clinical Utility of Functional Precision Medicine in the Management of Recurrent/Relapsed Childhood Rhabdomyosarcoma.
JCO Precis Oncol
; 52021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34738048
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