Pediatrics
Service
Publications by the researcher in collaboration with Ana Vega Gliemmo (13)
2024
-
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder
Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149
-
Host gene expression signatures to identify infection type and organ dysfunction in children evaluated for sepsis: a multicentre cohort study
The Lancet Child and Adolescent Health, Vol. 8, Núm. 5, pp. 325-338
-
Identification of copy-number variants in patients with overgrowth disorders
Clinical Genetics
2019
-
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
Scientific Reports, Vol. 9, Núm. 1
-
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
-
Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
2018
-
Life-threatening infections in children in Europe (the EUCLIDS Project): a prospective cohort study
The Lancet Child and Adolescent Health, Vol. 2, Núm. 6, pp. 404-414
2016
2014
-
No association between typical European mitochondrial variation and prostate cancer risk in a Spanish cohort
Journal of Human Genetics, Vol. 59, Núm. 7, pp. 411-414
2013
-
Indian Signatures in the Westernmost Edge of the European Romani Diaspora: New Insight from Mitogenomes
PLoS ONE, Vol. 8, Núm. 10
2010
-
The genomics serving pediatrics in the investigation of the multifactorial disease
Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60
2009
-
Investigating the role of mitochondrial haplogroups in genetic predisposition to meningococcal disease
PLoS ONE, Vol. 4, Núm. 12
2006
-
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Human mutation, Vol. 27, Núm. 2, pp. 214