PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Hospital Vall d'Hebron
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (18)
2022
-
Incidence and Prevalence of Children's Diffuse Lung Disease in Spain
Archivos de Bronconeumologia, Vol. 58, Núm. 1, pp. 22-29
-
Multicentre study of magnet ingestion in Spanish paediatric emergency departments
Anales de Pediatria, Vol. 97, Núm. 5, pp. 310-316
-
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
-
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
-
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
-
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
-
Spanish Pediatric Inflammatory Bowel Disease Diagnostic Delay Registry: SPIDER Study From Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátrica
Frontiers in Pediatrics, Vol. 8
-
Update of the Spanish registry of haemoglobinopathies in children and adults
Medicina Clinica, Vol. 155, Núm. 3, pp. 95-103
2019
-
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
-
Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2018
-
What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis
BMC Medical Genetics, Vol. 19, Núm. 1
2017
-
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Scientific Reports, Vol. 7, Núm. 1
2013
-
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
-
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
2012
-
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
-
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
-
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
BMC Neurology, Vol. 10
-
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