Hospital Universitario de Donostia-ko ikertzaileekin lankidetzan egindako argitalpenak (32)

2024

  1. Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR)

    Annals of Hematology, Vol. 103, Núm. 8, pp. 2743-2755

2022

  1. El cribado de hemoglobinopatías

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 123, pp. 97-99

  2. Multicentre study of magnet ingestion in Spanish paediatric emergency departments

    Anales de Pediatria, Vol. 97, Núm. 5, pp. 310-316

  3. Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers

    Cancer Epidemiology, Vol. 78

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)

    Scientific Reports

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Recommendations for the diagnosis and practical management of paediatric eosinophilic oesophagitis

    Anales de Pediatria, Vol. 92, Núm. 6, pp. 376.e1-376.e10

  2. Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica

    Frontiers in Pediatrics, Vol. 8

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

  3. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. Prehospital management of acute childhood poisoning in Spain

    Emergencias, Vol. 29, Núm. 3, pp. 178-181

  2. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Impact of quality-indicator-based measures to improve the treatment of acute poisoning in pediatric emergency patients

    Emergencias, Vol. 28, Núm. 1, pp. 31-37

2013

  1. Evaluating acceptance and user experience of a guideline-based clinical decision support system execution platform

    Journal of Medical Systems, Vol. 37, Núm. 2

  2. Fine Mapping and Functional Analysis of the Multiple Sclerosis Risk Gene CD6

    PLoS ONE, Vol. 8, Núm. 4

  3. Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

    Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33

  4. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2012

  1. Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report

    Journal of Medical Case Reports, Vol. 6