Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia e Pediatría
Fachbereich
Hospital for Sick Children
Toronto, CanadáPublikationen in Zusammenarbeit mit Forschern von Hospital for Sick Children (16)
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
2020
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Incidence, Treatment, and Outcome Trends of Necrotizing Enterocolitis in Preterm Infants: A Multicenter Cohort Study
Frontiers in Pediatrics, Vol. 8
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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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Prevention, diagnosis and treatment of necrotising enterocolitis in newborns less than 32 weeks at birth in Spain
Anales de Pediatria, Vol. 93, Núm. 3, pp. 161-169
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Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder (Nature Neuroscience, (2017), 20, 9, (1217-1224), 10.1038/nn.4598)
Nature Neuroscience
2019
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Cohort study showed that growth rate increment has not been enough to prevent growth retardation of preterm infants and raised concerns about unbalanced growth
Acta Paediatrica, International Journal of Paediatrics, Vol. 108, Núm. 10, pp. 1793-1800
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The Effect of Morbidity and Sex on Postnatal Growth of Very Preterm Infants: A Multicenter Cohort Study
Neonatology, Vol. 115, Núm. 4, pp. 348-354
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The impact of postnatal systemic steroids on the growth of preterm infants: A multicenter cohort study
Nutrients, Vol. 11, Núm. 11
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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
2017
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Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
Nature Neuroscience, Vol. 20, Núm. 9, pp. 1217-1224
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
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Lower respiratory tract infection caused by respiratory syncytial virus: Current management and new therapeutics
The Lancet Respiratory Medicine, Vol. 3, Núm. 11, pp. 888-900
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Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes
Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1
2014
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Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Nature Genetics, Vol. 46, Núm. 8, pp. 826-836
2012
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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
Nature Genetics, Vol. 44, Núm. 6, pp. 704-708