Marta
Cortón Pérez
Marta Cortón Pérez-rekin lankidetzan egindako argitalpenak (4)
2022
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Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
Journal of Medical Genetics, Vol. 59, Núm. 5, pp. 428-437
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
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Parental mosaicism in PAX6 causes intra-familial variability: Implications for genetic counseling of congenital aniridia and microphthalmia
Frontiers in Genetics, Vol. 9, Núm. OCT