Bioquímica, xenética e inmunoloxía
Département
Almudena
Ávila Fernández
Publications dans lesquelles il/elle collabore avec Almudena Ávila Fernández (5)
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
2010
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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
American Journal of Human Genetics, Vol. 86, Núm. 5, pp. 686-695