ELENA
VALLESPÍN GARCÍA
Profesora asociada
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublications in collaboration with researchers from 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