PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Universitario La Paz
Madrid, EspañaPublications en collaboration avec des chercheurs de Hospital Universitario La Paz (17)
2024
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Association between early echocardiography screening of low systemic blood flow and intraventricular hemorrhage in preterm infants: a multicenter cohort study
Journal of Perinatology
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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
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Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry
European Journal of Pediatrics, Vol. 183, Núm. 9, pp. 3757-3766
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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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
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Ultrasound-guided vascular access in the neonatal intensive care unit: a nationwide survey
European Journal of Pediatrics, Vol. 181, Núm. 6, pp. 2441-2451
2021
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
2013
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SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V
Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262
2010
2009
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Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma
Hormone and Metabolic Research, Vol. 41, Núm. 9, pp. 672-675