Publicaciones (268) Publicaciones en las que ha participado algún/a investigador/a

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

    Archives of Disease in Childhood

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

    Genes, Vol. 15, Núm. 1

  5. Genetic profile of a large Spanish cohort with hypercalcemia

    Frontiers in Endocrinology, Vol. 15

  6. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

  7. Increase in scabies consultations in Pediatric Emergency Department

    Piel

  8. Performance of Febrile Infant Algorithms by Duration of Fever

    Pediatrics, Vol. 153, Núm. 5

  9. The Human Phenotype Ontology in 2024: phenotypes around the world

    Nucleic acids research, Vol. 52, Núm. D1, pp. D1333-D1346

  10. Use of rasburicase to improve kidney function in children with hyperuricemia and acute kidney injury

    Clinical and Experimental Nephrology, Vol. 28, Núm. 1, pp. 13-22

  11. m6A Methylated Long Noncoding RNA LOC339803 Regulates Intestinal Inflammatory Response

    Advanced Science, Vol. 11, Núm. 13

2023

  1. A fast, cheap, and easy protocol for celiac disease HLA haplotype typing using buccal swabs

    Methods in Cell Biology (Academic Press Inc.), pp. 203-212

  2. A long non-coding RNA that harbors a SNP associated with type 2 diabetes regulates the expression of TGM2 gene in pancreatic beta cells

    Frontiers in Endocrinology, Vol. 14

  3. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  4. Analysis of a large case series of fatal familial insomnia to determine tests with the highest diagnostic value

    Journal of neuropathology and experimental neurology, Vol. 82, Núm. 2, pp. 169-179

  5. Autoimmune Diabetes From Childhood to Adulthood: The Role of Pancreatic Autoantibodies and HLA-DRB1 Genotype

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1341-e1346

  6. Becoming a secondary actor of one's own life: A qualitative study of the experiences of informal caregivers in the care of people with chronic pain

    Health Expectations, Vol. 26, Núm. 1, pp. 409-418

  7. C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinical Variability from Amyotrophic Lateral Sclerosis to Frontotemporal Dementia

    Journal of Personalized Medicine, Vol. 13, Núm. 9

  8. Characteristics of Pediatric Emergency Department Presentations of Anaphylaxis in Spain

    Pediatric Emergency Care, Vol. 39, Núm. 10, pp. 755-759

  9. Clinical and genetic characteristics of Dent's disease type 1 in Europe

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 6, pp. 1497-1507