Publicacións (123) Publicacións nas que participase algún/ha investigador/a

2019

  1. A LC-MS/MS method for the determination of common synthetic cathinones in meconium

    Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences, Vol. 1124, pp. 349-355

  2. A Novel Calsequestrin 2 Deletion Causing Catecholaminergic Polymorphic Ventricular Tachycardia and Sudden Cardiac Death

    Revista Espanola de Cardiologia, Vol. 72, Núm. 8, pp. 681-683

  3. A multidrug LC-MS/MS method for the determination of five immunosuppressants in oral fluid

    Bioanalysis, Vol. 11, Núm. 16, pp. 1509-1521

  4. A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  5. A reliable method for estimating the postmortem interval from the biochemistry of the vitreous humor, temperature and body weight

    Forensic Science International, Vol. 295, pp. 157-168

  6. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

  7. ANGPTL-4 is associated with obesity and lipid profile in children and adolescents

    Nutrients, Vol. 11, Núm. 6

  8. AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    Annals of Neurology, Vol. 85, Núm. 5, pp. 740-751

  9. Acylcarnitine profile in neonatal hypoxic-ischemic encephalopathy: The value of butyrylcarnitine as a prognostic marker

    Medicine, Vol. 98, Núm. 15, pp. e15221

  10. Anamnestic immune response and safety of an inactivated quadrivalent influenza vaccine in primed versus vaccine-naïve children

    Pediatric Infectious Disease Journal, Vol. 38, Núm. 2, pp. 203-210

  11. Assessing cross-national invariance of the Community Assessment of Psychic Experiences (CAPE)

    Psychological Medicine, Vol. 49, Núm. 15, pp. 2600-2607

  12. Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum-based chemoradiotherapy treatment

    Head and Neck, Vol. 41, Núm. 8, pp. 2704-2715

  13. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics

  14. Attitudes towards physician-assisted suicide and euthanasia in Spanish university students

    Revista Bioetica, Vol. 27, Núm. 3, pp. 490-499

  15. Automated therapy preparation of isoleucine formulations using 3D printing for the treatment of MSUD: First single-centre, prospective, crossover study in patients

    International Journal of Pharmaceutics, Vol. 567

  16. BDNF genetic variants and methylation: effects on cognition in major depressive disorder

    Translational Psychiatry, Vol. 9, Núm. 1

  17. Bacteremia in Childhood Life-Threatening Infections in Urban Gambia: EUCLIDS in West Africa

    Open Forum Infectious Diseases, Vol. 6, Núm. 9

  18. Betaine anhydrous in homocystinuria: Results from the RoCH registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  19. Beyond the CSI effect: the keys to good forensic genetics communication

    Mètode Science Studies Journal: Annual Review, Núm. 9, pp. 30-37

  20. Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population

    Scientific Reports, Vol. 9, Núm. 1