Publicaciones en colaboración con investigadores/as de Universidad del País Vasco/Euskal Herriko Unibertsitatea (43)

2023

  1. Immunisation schedule of the Spanish Association of Paediatrics: 2023 Recommendations

    Anales de Pediatria, Vol. 98, Núm. 1, pp. 58.e1-58.e10

  2. Incidence of ultrasonographic signs of pneumothorax in asymptomatic neonates

    Pediatric Pulmonology, Vol. 58, Núm. 6, pp. 1691-1696

2022

  1. El cribado de hemoglobinopatías

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

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

    Scientific Reports, Vol. 11, Núm. 1

  3. Immunisation schedule of the Pediatric Spanish Association: 2021 recommendations

    Anales de Pediatria, Vol. 94, Núm. 1, pp. 53.e1-53.e10

  4. Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience

    Children, Vol. 8, Núm. 11

2020

  1. Immunisation schedule of the Spanish Association of Paediatrics: 2020 recommendations

    Anales de Pediatria, Vol. 92, Núm. 1, pp. 52.e1-52.e10

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

2018

  1. Does arterial hypertension influence the onset of Huntington’s disease?

    PLoS ONE, Vol. 13, Núm. 5

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Exploring genetic factors involved in huntington disease age of onset: E2F2 as a new potential modifier gene

    PLoS ONE, Vol. 10, Núm. 7

2013

  1. A novel form of human disease

    Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210

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

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

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

    PLoS ONE, Vol. 8, Núm. 4

  4. 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

2012

  1. Absence of COCH gene mutations in patients with superior semicircular canal dehiscence

    American Journal of Medical Genetics, Part A

  2. Replication study of 10 genes showing evidence for association with multiple sclerosis: Validation of TMEM39A, IL12B and CLBL genes

    Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 959-965