Publications (450) Publications in which a researcher has participated

2025

  1. Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge–Ropers Syndrome

    Clinical Genetics

2024

  1. Adult syndromology: Challenges, opportunities and perspectives Illustrated by the description of four adults with Costello syndrome

    Medizinische Genetik, Vol. 36, Núm. 2, pp. 95-102

  2. Consenso de expertos para el manejo de pacientes con acondroplasia en tratamiento con vosoritida

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 101, Núm. 6, pp. 401-410

  3. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

  4. Global burden of pediatric asthma and rhinitis - what we have recently learned from epidemiology

    Current Opinion in Allergy and Clinical Immunology, Vol. 24, Núm. 3, pp. 177-181

  5. Grand challenges in genetics and epidemiology of allergic diseases: from genome to exposome and back

    Frontiers in Allergy, Vol. 5

  6. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    Genes, Vol. 15, Núm. 6

  7. Identification of copy-number variants in patients with overgrowth disorders

    Clinical Genetics, Vol. 106, Núm. 5, pp. 614-624

  8. Longitudinal transcriptional immune profiles and persistent wheezing in moderate-to-late preterm infants

    Pediatric Allergy and Immunology, Vol. 35, Núm. 10

  9. Maternal non-compliance with recommended folic acid supplement use alters global DNA methylation in cord blood of newborns: A cohort study

    Clinical Nutrition, Vol. 43, Núm. 6, pp. 1191-1198

  10. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

  11. Pediatric clinical simulation and student satisfaction survey in medical degree

    Educacion Medica, Vol. 25, Núm. 5

  12. Plasma polyamines during pregnancy and their relationships with maternal allergies and the immune response of the neonates

    Pediatric Allergy and Immunology, Vol. 35, Núm. 6

  13. Prevalence of atopic eczema in adolescents from a very low prevalence area (Kosovo): role of wheezing, gender, exercise, and paracetamol

    Allergologia et Immunopathologia, Vol. 52, Núm. 6, pp. 40-50

  14. Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry

    European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3757-3766

  15. Recommendations for asthma monitoring in children: A PeARL document endorsed by APAPARI, EAACI, INTERASMA, REG, and WAO

    Pediatric Allergy and Immunology, Vol. 35, Núm. 4

  16. Role of body mass index in unbalanced (dysanaptic) lung growth of healthy infants

    Pediatric Pulmonology

  17. The Early Appearance of Asthma and Its Relationship with Gut Microbiota: A Narrative Review

    Microorganisms, Vol. 12, Núm. 7

  18. Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene

    Revista de Neurologia, Vol. 79, Núm. 3, pp. 95-97

  19. Urinary concentrations of non-essential and essential elements during weaning in infants from the NELA cohort in Spain

    Environmental Research, Vol. 263