Genética, Fisiología y Microbiología
Département
Instituto de Investigación Sanitaria del Hospital Universitario La Paz
Madrid, EspañaPublications en collaboration avec des chercheurs de Instituto de Investigación Sanitaria del Hospital Universitario La Paz (19)
2024
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Low-level HIV-1 viremia affects T-cell activation and senescence in long-term treated adults in the INSTI era
Journal of Biomedical Science, Vol. 31, Núm. 1
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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Treatment of congenital coagulopathies, from biologic to biotechnological drugs: The relevance of gene editing (CRISPR/Cas)
Thrombosis Research, Vol. 231, pp. 99-111
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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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HCV eradication with DAAs differently affects HIV males and females: A whole miRNA sequencing characterization
Biomedicine and Pharmacotherapy, Vol. 145
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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
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Different HCV exposure drives specific miRNA profile in PBMCS of HIV patients
Biomedicines, Vol. 9, Núm. 11
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Expanding the phenotypic spectrum of pax6 mutations: From congenital cataracts to nystagmus
Genes, Vol. 12, Núm. 5
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Gene therapy in hemophilia: Recent advances
International Journal of Molecular Sciences, Vol. 22, Núm. 14
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Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes
HemaSphere, Vol. 5, Núm. 4
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
2012
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Effect of short- and long-term portal hypertension on adrenergic, nitrergic and sensory functioning in rat mesenteric artery
Clinical Science, Vol. 122, Núm. 7, pp. 337-348