DIANA
VALVERDE PEREZ
CATEDRATICO/A DE UNIVERSIDAD TC
Marta
Cortón Pérez
Publications dans lesquelles il/elle collabore avec Marta Cortón Pérez (6)
2022
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
npj Genomic Medicine, Vol. 7, Núm. 1
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
2018
2015
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Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513
2012
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Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
Molecular vision, Vol. 18, pp. 1794-1802