Publications en collaboration avec des chercheurs de Hospital Universitario Son Espases (13)

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. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

    Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29

  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. Update of the Spanish registry of haemoglobinopathies in children and adults

    Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103

2019

  1. 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

2010

  1. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    BMC Neurology, Vol. 10