Oftalmologia
Espezialitatea
RAQUEL SÁEZ VILLAVERDE-rekin lankidetzan egindako argitalpenak (4)
2022
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Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity
Ophthalmic genetics, Vol. 43, Núm. 6, pp. 809-816
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Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant
Clinical Genetics
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