Publications en collaboration avec des chercheurs de Universidad del País Vasco/Euskal Herriko Unibertsitatea (55)

2024

  1. Haplotype-Aware Detection of SERPINA1 Variants by Nanopore Sequencing

    Journal of Molecular Diagnostics, Vol. 26, Núm. 11, pp. 971-987

2022

  1. Development of Lung Function in Preterm Infants During the First Two Years of Life

    Archivos de Bronconeumologia, Vol. 58, Núm. 3, pp. 237-245

  2. Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology, Vol. 98, Núm. 9, pp. E912-E923

  3. Diverse mutations and structural variations contribute to Notch signaling deregulation in paediatric T-cell lymphoblastic lymphoma

    Pediatric Blood and Cancer, Vol. 69, Núm. 11

  4. El cribado de hemoglobinopatías

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

  5. Multi-ancestry genome-wide association study of asthma exacerbations

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology, Vol. 33, Núm. 6, pp. e13802

2020

  1. 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