PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Universitario Virgen del Rocío
Sevilla, EspañaPublications en collaboration avec des chercheurs de Hospital Universitario Virgen del Rocío (15)
2024
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Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR)
Annals of Hematology, Vol. 103, Núm. 8, pp. 2743-2755
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Increased Severity of Mycoplasma pneumoniae Infections in Spanish Children
Pediatric Infectious Disease Journal
2022
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Incidence and Prevalence of Children's Diffuse Lung Disease in Spain
Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29
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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
2020
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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What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2017
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Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos
Neurologia, Vol. 32, Núm. 6, pp. 377-385
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2010
1996
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Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentation
Journal of Medical Genetics, Vol. 33, Núm. 10, pp. 820-822