Publicacions en què col·labora amb Blanca García Sandoval (7)

2022

  1. Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    npj Genomic Medicine, Vol. 7, Núm. 1

2021

  1. 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

  2. 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

  1. 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

2005

  1. Clinical and genetic studies in Spanish patients with Usher syndrome type II: Description of new mutations and evidence for a lack of genotype-phenotype correlation

    Clinical Genetics, Vol. 68, Núm. 3, pp. 204-214

1996

  1. Identification of a novel R552Q mutation in exon 13 of the β-subunit of rod phosphodiesterase gene in a spanish family with autosomal recessive retinitis pigmentosa

    Human Mutation, Vol. 8, Núm. 4, pp. 393-394

1995

  1. Retinitis pigmentosa in Spain

    Clinical Genetics, Vol. 48, Núm. 3, pp. 120-122