Complexo Hospitalario Universitario de Santiago
Centro de atención
VU University Medical Center
Ámsterdam, HolandaPublicacións en colaboración con investigadores/as de VU University Medical Center (34)
2024
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Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine, Vol. 26, Núm. 4
2023
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One-Third of European Patients With Axial Spondyloarthritis Reach Pain Remission With Routine Care Tumor Necrosis Factor Inhibitor Treatment
Journal of Rheumatology, Vol. 50, Núm. 8, pp. 1009-1019
2022
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Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Nature, Vol. 604, Núm. 7906, pp. 502-508
2020
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Drug retention, inactive disease and response rates in 1860 patients with axial spondyloarthritis initiating secukinumab treatment: routine care data from 13 registries in the EuroSpA collaboration
RMD open, Vol. 6, Núm. 3
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Impact of discordance between patient's and evaluator's global assessment on treatment outcomes in 14 868 patients with spondyloarthritis
Rheumatology (United Kingdom), Vol. 59, Núm. 9, pp. 2455-2461
2019
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2018 update of the EULAR recommendations for the management of hand osteoarthritis
Annals of the Rheumatic Diseases, Vol. 78, Núm. 1, pp. 16-24
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Carbon dioxide embolism associated with transanal total mesorectal excision surgery: A report from the international registries
Diseases of the Colon and Rectum, Vol. 62, Núm. 7, pp. 794-801
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Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
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Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
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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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Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
2018
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Oral budesonide in gastrointestinal and liver disease: A practical guide for the clinician
Journal of Gastroenterology and Hepatology (Australia), Vol. 33, Núm. 9, pp. 1574-1581
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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
2017
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A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
American Journal of Human Genetics, Vol. 100, Núm. 1, pp. 64-74
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Drivers of patient global assessment in patients with rheumatoid arthritis who are close to remission: An analysis of 1588 patients
Rheumatology (United Kingdom), Vol. 56, Núm. 9, pp. 1573-1578
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Relationship between fibrillin-1 genotype and severity of cardiovascular involvement in Marfan syndrome
Heart, Vol. 103, Núm. 22, pp. 1795-1799
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The Global Alliance for Infections in Surgery: Defining a model for antimicrobial stewardship-results from an international cross-sectional survey
World Journal of Emergency Surgery, Vol. 12, Núm. 1
2016
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Investigating rare haematological disorders - A celebration of 10 years of the Sherlock Holmes symposia
European Oncology and Haematology, Vol. 12, Núm. 1, pp. 55-61
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Points to consider for reporting, screening for and preventing selected comorbidities in chronic inflammatory rheumatic diseases in daily practice: A EULAR initiative
Annals of the Rheumatic Diseases, Vol. 75, Núm. 6, pp. 965-973
2015
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312