Bioquímica, xenética e inmunoloxía

Departament

Foto de Bioquímica, xenética e inmunoloxía

Foto de Almudena

Almudena
Ávila Fernández

Publicacions en què col·labora amb 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

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Scientific Reports, Vol. 8, Núm. 1

2010

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71
American Journal of Human Genetics, Vol. 86, Núm. 5, pp. 686-695