Complexo Hospitalario Universitario de Santiago
Centro de atención
University of Pennsylvania
Filadelfia, Estados UnidosPublicacións en colaboración con investigadores/as de University of Pennsylvania (46)
2023
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Identification of new risk loci shared across systemic vasculitides points towards potential target genes for drug repurposing
Annals of the Rheumatic Diseases, Vol. 82, Núm. 6, pp. 837-847
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Surveillance for Presumed BD-IPMN of the Pancreas: Stability, Size, and Age Identify Targets for Discontinuation
Gastroenterology, Vol. 165, Núm. 4, pp. 1016-1024.e5
2022
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Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
PLoS genetics, Vol. 18, Núm. 11, pp. e1010367
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Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Nature, Vol. 604, Núm. 7906, pp. 502-508
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Psychometric properties of outcome measurement instruments for ANCA-associated vasculitis: a systematic literature review
Rheumatology (Oxford, England), Vol. 61, Núm. 12, pp. 4603-4618
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Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries (Nature, (2022), 611, 7934, (115-123), 10.1038/s41586-022-05165-3)
Nature
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Stroke genetics informs drug discovery and risk prediction across ancestries
Nature, Vol. 611, Núm. 7934, pp. 115-123
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What is the optimal antimicrobial prophylaxis to prevent postoperative infectious complications after liver transplantation? A systematic review of the literature and expert panel recommendations
Clinical Transplantation, Vol. 36, Núm. 10
2021
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Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692
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Evidence-based defibrillation dosage for children: Is it feasible to power a reliable pediatric clinical trial or it is mission impossible?
Resuscitation
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Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates
Endocrine Pathology, Vol. 32, Núm. 1, pp. 77-101
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Performing simulated basic life support without seeing: Blind vs. blindfolded people
International Journal of Environmental Research and Public Health, Vol. 18, Núm. 20
2020
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Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
Scientific Reports, Vol. 10, Núm. 1
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Prevalence of Errors in Anaphylaxis in Kids (PEAK): A Multicenter Simulation-Based Study
Journal of Allergy and Clinical Immunology: In Practice, Vol. 8, Núm. 4, pp. 1239-1246.e3
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Use of allergy tests to identify dietary and environmental triggers of eosinophilic esophagitis: protocol for a systematic review
Allergo Journal International, Vol. 29, Núm. 8, pp. 280-283
2019
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
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Risk Factors for Mortality in Pediatric Postsurgical versus Medical Severe Sepsis
Journal of Surgical Research, Vol. 242, pp. 100-110
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 93-106
2018
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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
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Rivaroxaban or aspirin for patent foramen ovale and embolic stroke of undetermined source: a prespecified subgroup analysis from the NAVIGATE ESUS trial
The Lancet Neurology, Vol. 17, Núm. 12, pp. 1053-1060