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Anales De Pediatria|July 20, 2017
[Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options]Gabriel A Martos-Moreno, Joan Calzada, María L Couce, et al.
Nutrients|October 6, 2020
Clinical Utility of LCT Genotyping in Children with Suspected Functional Gastrointestinal DisorderMaría L Couce, Paula Sánchez-Pintos, Emiliano González-Vioque, et al.
Journal of Biomedical Informatics|September 15, 2020
Automated generation of decision-tree models for the economic assessment of interventions for rare diseases using the RaDiOS ontologyDavid Prieto-González, Iván Castilla-Rodríguez, Evelio González, et al.
Journal of Biomedical Informatics|May 26, 2019
Towards the automated economic assessment of newborn screening for rare diseasesDavid Prieto-González, Iván Castilla-Rodríguez, Evelio González, et al.
Clinical Science (London, England : 1979)|August 25, 2016
Molecular mechanisms of appetite and obesity: a role for brain AMPKPablo B Martínez de Morentin, Adela Urisarri, María L Couce, et al.
International Journal of Molecular Sciences|June 5, 2018
Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding GenesIria Roca, Ana Fernández-Marmiesse, Sofía Gouveia, et al.
Medicine|July 7, 2017
Influence of phenylketonuria's diet on dimethylated arginines and methylation cycleFernando Andrade, Olalla López-Suárez, Marta Llarena, et al.
Medicine|December 5, 2018
Neonatal lethal hypophosphatasia: A case report and review of literatureLaura Castells, Pía Cassanello, Felix Muñiz, et al.
Orphanet Journal of Rare Diseases|June 4, 2021
Treatment adherence in tyrosinemia type 1 patientsDomingo González-Lamuño, Paula Sánchez-Pintos, Fernando Andrade, et al.
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