ELENA
VALLESPÍN GARCÍA
Investigadora hasta 2022
Hospital Virgen de la Arrixaca
Murcia, EspañaPublicaciones en colaboración con investigadores/as de Hospital Virgen de la Arrixaca (7)
2022
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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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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)
Scientific Reports
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Scientific Reports, Vol. 11, Núm. 1
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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
2014
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A new overgrowth syndrome is due to mutations in RNF125
Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441