CLINICAL PEDIATRICS AND RARE DISEASES
Hospital Universitario Central de Asturias
Oviedo, EspañaPublications in collaboration with researchers from Hospital Universitario Central de Asturias (14)
2024
-
Association between early echocardiography screening of low systemic blood flow and intraventricular hemorrhage in preterm infants: a multicenter cohort study
Journal of Perinatology
-
Increased Severity of Mycoplasma pneumoniae Infections in Spanish Children
Pediatric Infectious Disease Journal
2022
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
-
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
-
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
2015
-
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients
Gene, Vol. 561, Núm. 1, pp. 165-169
2013
-
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
-
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
2006
-
Emergency visits for childhood poisoning: A 2-year prospective multicenter survey in Spain
Pediatric Emergency Care, Vol. 22, Núm. 5, pp. 334-338