ELENA
VALLESPÍN GARCÍA
Profesora asociada
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (13)
2023
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OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population
Current Issues in Molecular Biology, Vol. 45, Núm. 1, pp. 465-478
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Posterior Polymorphous Corneal Dystrophy in a Patient with a Novel ZEB1 Gene Mutation
International Journal of Molecular Sciences, Vol. 24, Núm. 1
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Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
International Journal of Molecular Sciences, Vol. 24, Núm. 14
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Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia
International Journal of Molecular Sciences, Vol. 24, Núm. 21
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Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
Genes, Vol. 14, Núm. 10
2022
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Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study
International Journal of Molecular Sciences, Vol. 23, Núm. 8
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Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals
Frontiers in Genetics, Vol. 13
2021
2019
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2017
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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta
Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39
2016
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The impact of next-generation sequencing on the DNA methylation-based translational cancer research
Translational Research, Vol. 169, pp. 1-18.e1
2013
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A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability
Gene, Vol. 521, Núm. 1, pp. 82-86