CLINICAL PEDIATRICS AND RARE DISEASES
Hospital Clínico San Carlos de Madrid
Madrid, EspañaPublications in collaboration with researchers from Hospital Clínico San Carlos de Madrid (16)
2024
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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
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
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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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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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Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33
2012
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Replication study of 10 genes showing evidence for association with multiple sclerosis: Validation of TMEM39A, IL12B and CLBL genes
Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 959-965
2011
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Replication of top markers of a genome-wide association study in multiple sclerosis in Spain
Genes and Immunity, Vol. 12, Núm. 2, pp. 110-115
2010
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The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
Genes and Immunity, Vol. 11, Núm. 5, pp. 439-445
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