Publications by authors named "Maria Tarilonte"

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Activation of cryptic donor splice sites by non-coding and coding variants contributes to congenital aniridia.
Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly

J Med Genet· May 2022

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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Fabiola Ceroni, Domingo Aguilera-Garcia, Nicolas Chassaing, Dorine Arjanne Bax, Fiona Blanco-Kelly, Maria Tarilonte

Hum Genet· September 2019

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Parental Mosaicism in Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly

Front Genet· October 2018

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