Bioquímica, xenética e inmunoloxía
Fachbereich
Almudena
Ávila Fernández
Publikationen, an denen er mitarbeitet Almudena Ávila Fernández (5)
2022
-
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome
npj Genomic Medicine, Vol. 7, Núm. 1
2021
-
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
-
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
-
Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
American Journal of Human Genetics, Vol. 86, Núm. 5, pp. 686-695