Blanca
García Sandoval
Publicacións nas que colabora con Blanca García Sandoval (7)
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
2005
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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
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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
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Retinitis pigmentosa in Spain
Clinical Genetics, Vol. 48, Núm. 3, pp. 120-122