Facultad de Ciencias de la Salud
Facultad
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (22)
2024
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Novel risk loci for COVID-19 hospitalization among admixed American populations
eLife, Vol. 13
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Small pituitary volume and central nervous system anomalies in Fanconi Anemia
Frontiers in Endocrinology, Vol. 15
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Gene therapy restores the transcriptional program of hematopoietic stem cells in Fanconi anemia
Haematologica, Vol. 108, Núm. 10, pp. 2652-2663
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Genetic signature detected in T cell receptors from patients with severe COVID-19
iScience, Vol. 26, Núm. 10
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Thrombin generation profile using ST-Genesia after PEG-asparaginase in pediatric patients with acute lymphoblastic leukemia
Thrombosis and Haemostasis
2022
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
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Dietary patterns, eating behavior, and nutrient intakes of spanish preschool children with autism spectrum disorders
Nutrients, Vol. 13, Núm. 10
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Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes
Molecular Therapy - Methods and Clinical Development, Vol. 22, pp. 66-75
2020
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Sfrp1 deficiency makes retinal photoreceptors prone to degeneration
Scientific reports, Vol. 10, Núm. 1, pp. 5115
2017
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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Journal of Pediatrics, Vol. 183, pp. 170-177.e1
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DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stress
PLoS ONE, Vol. 12, Núm. 6
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Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
PLoS ONE, Vol. 12, Núm. 11
2016
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Immunomagnetic T cell depletion: An analysis of variables affecting final cell yield
Clinical Laboratory, Vol. 62, Núm. 7, pp. 1243-1248
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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043
2015
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Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48
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Complexity of the hereditary motor and sensory neuropathies
Journal of Child Neurology, Vol. 30, Núm. 11, pp. 1544-1548
2011
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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Neurogenetics, Vol. 12, Núm. 3, pp. 183-191
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Sox2-mediated differential activation of Six3.2 contributes to forebrain patterning
Development, Vol. 139, Núm. 1, pp. 151-164
2009
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Cell cycle control of Notch signaling and the functional regionalization of the neuroepithelium during vertebrate neurogenesis
International Journal of Developmental Biology, Vol. 53, Núm. 7, pp. 895-908