Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario Puerta de Hierro (6)

2022

  1. Editorial: NGS technologies of rare diseases diagnosis

    Frontiers in Pediatrics

  2. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  3. Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

2018

  1. Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain

    Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221

2016

  1. Vertically transmitted cytomegalovirus infection in newborn preterm infants

    Journal of Perinatal Medicine, Vol. 44, Núm. 5, pp. 485-490