DIANA
VALVERDE PEREZ

CATEDRATICO/A DE UNIVERSIDAD TC

Foto de DIANA

Foto de Marta

Marta
Cortón Pérez

Publications by the researcher in collaboration with Marta Cortón Pérez (6)

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

2015

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
Journal of Medical Genetics, Vol. 52, Núm. 8, pp. 503-513

2012

Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.
Molecular vision, Vol. 18, pp. 1794-1802