Pediatría
Departamento
Olatz
Villate Bejarano
Publicaciones en las que colabora con Olatz Villate Bejarano (12)
2023
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
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Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing
Scientific Reports, Vol. 13, Núm. 1
2022
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Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma
Cancers, Vol. 14, Núm. 2
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Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer
Cancers, Vol. 14, Núm. 23
2020
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Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco
Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
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Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability
Genes, Vol. 11, Núm. 1
2019
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8.4 Acidurias orgánicas y defectos del ciclo de la urea.
Manual de pediatría (Ergon), pp. 675-680
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics
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Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders
Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798
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Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?
Clinical Nutrition
2018
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New CTSA mutation in early infantile galactosialidosis
Pediatrics International