PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Universitario 12 de Octubre
Madrid, EspañaPublications en collaboration avec des chercheurs de Hospital Universitario 12 de Octubre (18)
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
2023
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Immunisation schedule of the Spanish Association of Paediatrics: 2023 Recommendations
Anales de Pediatria, Vol. 98, Núm. 1, pp. 58.e1-58.e10
2022
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Immunisation schedule of the Pediatric Spanish Association: 2022 recommendations
Anales de Pediatria, Vol. 96, Núm. 1, pp. 59.e1-59.e10
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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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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: 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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Immunisation schedule of the Pediatric Spanish Association: 2021 recommendations
Anales de Pediatria, Vol. 94, Núm. 1, pp. 53.e1-53.e10
2020
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Generation, establishment and characterization of a pluripotent stem cell line (CVTTHi001-A) from primary fibroblasts isolated from a patient with activated PI3 kinase delta syndrome (APDS2)
Stem Cell Research, Vol. 49
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Immunisation schedule of the Spanish Association of Paediatrics: 2020 recommendations
Anales de Pediatria, Vol. 92, Núm. 1, pp. 52.e1-52.e10
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Recommendations for the diagnosis and practical management of paediatric eosinophilic oesophagitis
Anales de Pediatria, Vol. 92, Núm. 6, pp. 376.e1-376.e10
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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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
2013
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Application of FISH 7q in MDS patients without monosomy 7 or 7q deletion by conventional G-banding cytogenetics: Does -7/7q- detection by FISH have prognostic value?
Leukemia Research, Vol. 37, Núm. 4, pp. 416-421
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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