Pediatría
Departamento
Universitat Autònoma de Barcelona
Barcelona, EspañaPublicaciones en colaboración con investigadoras/es de Universitat Autònoma de Barcelona (62)
2024
2023
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Characteristics and outcomes of the Spanish registry for pediatric patients with bicuspid aortic valve (REVAB)
Revista Espanola de Cardiologia, Vol. 76, Núm. 12, pp. 961-969
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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
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Immunisation schedule of the Spanish Association of Paediatrics: 2023 Recommendations
Anales de Pediatria, Vol. 98, Núm. 1, pp. 58.e1-58.e10
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Inhaler Technique Questionnaire (InTeQ) in pediatric patients with asthma
World Journal of Pediatrics
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Key Genes of the Immune System and Predisposition to Acquired Hemophilia A: Evidence from a Spanish Cohort of 49 Patients Using Next-Generation Sequencing
International Journal of Molecular Sciences, Vol. 24, Núm. 22
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Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130
2022
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Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 37, Núm. 10, pp. 1906-1915
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Current status of precision medicine in pediatric oncology in Spain: a consensus report by the Spanish Society of Paediatric Haematology and Oncology (SEHOP)
Clinical and Translational Oncology, Vol. 24, Núm. 5, pp. 809-815
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Development of Lung Function in Preterm Infants During the First Two Years of Life
Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245
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Genetic diagnosis of basal ganglia disease in childhood
Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752
2021
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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)
Orphanet Journal of Rare Diseases
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Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene
Journal of Inherited Metabolic Disease, Vol. 44, Núm. 2, pp. 401-414
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Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75
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Interferon-Gamma Release Assays Differentiate between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children
Journal of Pediatrics, Vol. 236, pp. 211-218.e2
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Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1
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Small for Gestational Age Moderate to Late Preterm Children: A Neuropsychological Follow-up
Developmental Neuropsychology, Vol. 46, Núm. 4, pp. 277-287
2020
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Consensus Document on Community-Acquired Pneumonia in Children. SENP-SEPAR-SEIP
Archivos de Bronconeumologia, Vol. 56, Núm. 11, pp. 725-741
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Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17