PEDIATRIA KLINIKOA ETA GAIXOTASUN ARRAROAK
Hospital de Cruces
Barakaldo, EspañaHospital de Cruces-ko ikertzaileekin lankidetzan egindako argitalpenak (47)
2022
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366
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Multicentre study of magnet ingestion in Spanish paediatric emergency departments
Anales de Pediatria, Vol. 97, Núm. 5, pp. 310-316
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Neuroblastoma in Spain: Linking the national clinical database and epidemiological registries – A study by the Joint Action on Rare Cancers
Cancer Epidemiology, Vol. 78
2021
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
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Importance of timely treatment initiation in infantile-onset pompe disease, a single-centre experience
Children, Vol. 8, Núm. 11
2019
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X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
Scientific Reports, Vol. 9, Núm. 1
2018
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Oral immunotherapy with egg and milk: Changes in peripheral serum cytokines are not predictive factors for severe adverse reactions or for the final report
Journal of Investigational Allergology and Clinical Immunology, Vol. 28, Núm. 1, pp. 24-28
2017
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Intoxicaciones por droga ilegal en niños de corta edad en los servicios de urgencias pediátricos españoles
Anales de Pediatria, Vol. 86, Núm. 1, pp. 47-49
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Prehospital management of acute childhood poisoning in Spain
Emergencias, Vol. 29, Núm. 3, pp. 178-181
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2016
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Impact of quality-indicator-based measures to improve the treatment of acute poisoning in pediatric emergency patients
Emergencias, Vol. 28, Núm. 1, pp. 31-37
2015
2014
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Diferencias territoriales en las intoxicaciones agudas en menores de 14 años en España
Anales de Pediatria, Vol. 82, Núm. 1, pp. e39-e43
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Geographical analysis of the sporadic Creutzfeldt-Jakob disease distribution in the autonomous community of the Basque country for the period 1995-2008
European Neurology, Vol. 72, Núm. 1-2, pp. 20-25
2013
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A novel form of human disease
Prion Biology: Research and Advances (Apple Academic Press), pp. 179-210
2012
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Coexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt-Jakob disease: A case report
Journal of Medical Case Reports, Vol. 6
2010
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Occult pneumonia in infants with high fever without source: A prospective multicenter study
Pediatric Emergency Care, Vol. 26, Núm. 7, pp. 470-474
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Towards an effective knowledge translation of clinical guidelines and complementary information
Advances in Intelligent and Soft Computing