Publications (274) Publications in which a researcher has participated View referenced research data.

2025

  1. Asesoramiento genético en la era de la secuenciación masiva

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 102, Núm. 1

  2. Infecciones bacterianas invasivas en lactantes febriles menores de 3 meses tras la pandemia

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 102, Núm. 1

  3. Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals

    Journal of Inherited Metabolic Disease, Vol. 48, Núm. 1

2024

  1. A Novel, Noninvasive Method to Diagnose Active Eosinophilic Esophagitis, Combining Clinical Data and Oral Cavity RNA Levels

    Clinical Gastroenterology and Hepatology

  2. A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions

    Nature Communications, Vol. 15, Núm. 1

  3. A novel long non-coding RNA connects obesity to impaired adipocyte function

    Molecular Metabolism, Vol. 90

  4. Analysis of guideline recommendations for treatment of asthma exacerbations in children: a Pediatric Emergency Research Networks (PERN) study

    Archives of Disease in Childhood, Vol. 109, Núm. 6, pp. 468-475

  5. Avulsion of Permanent Teeth in the Pediatric Emergency Department

    Pediatric Emergency Care

  6. Characteristics of oncology patients with fever and invasive bacterial infections diagnosed

    Acta Paediatrica, International Journal of Paediatrics, Vol. 113, Núm. 12, pp. 2550-2555

  7. Choosing the Best Tissue and Technique to Detect Mosaicism in Fibrous Dysplasia/McCune–Albright Syndrome (FD/MAS)

    Genes, Vol. 15, Núm. 1

  8. Colonic adenomatous polyp with florid presence of monoclonal lambda Russell bodies: Case report and etiopathogenic hypothesis

    Revista Espanola de Patologia, Vol. 57, Núm. 2, pp. 111-115

  9. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  10. Dilated Cardiomyopathy With Concomitant Salt-Losing Renal Tubulopathy Caused by Heterozygous RRAGD Gene Variant

    Circulation: Genomic and Precision Medicine, Vol. 17, Núm. 2, pp. E004336

  11. Disruptore endokrinoek eragiten al dute endometriosian? Berrikuspen sistematikoa

    Ekaia: Euskal Herriko Unibertsitateko zientzi eta teknologi aldizkaria, Núm. 45, pp. 11-34

  12. Drug-delivery and biological activity in colorectal cancer of a supramolecular porous material assembled from heptameric chromium-copper-adenine entities

    Journal of Materials Chemistry B, Vol. 12, Núm. 43, pp. 11156-11164

  13. Evaluating the association between placenta DNA methylation and cognitive functions in the offspring

    Translational Psychiatry, Vol. 14, Núm. 1

  14. Exploring the genetics of airflow limitation in lung function across the lifespan – a polygenic risk score study

    eClinicalMedicine, Vol. 75

  15. Features Associated With Radiographic Pneumonia in Children with SARS-CoV-2

    Journal of the Pediatric Infectious Diseases Society, Vol. 13, Núm. 4, pp. 257-259

  16. Genetic profile of a large Spanish cohort with hypercalcemia

    Frontiers in Endocrinology, Vol. 15

  17. Hacia el tratamiento etiológico en fases tempranas de la diabetes tipo 1 en la edad pediátrica: el inicio de una nueva era en su abordaje

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 101, Núm. 1, pp. 1-2