Publications by authors named "Rebeca Valero"

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn, Rebeca Valero

medRxiv· January 2025

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A Novel Pathogenic Variant in the Gene in a Family with Meesmann Corneal Dystrophy.
Alix De Faria, Víctor Charoenrook, Raquel Larena, Álvaro Ferragut-Alegre, Rebeca Valero

J Clin Med· January 2025

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The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.
Cristina Villanueva-Mendoza, Miquel Tuson, David Apam-Garduño, Marta de Castro-Miró, Raul Tonda, Rebeca Valero

Genes (Basel)· November 2021

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Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.
Vasileios Toulis, Vianney Cortés-González, Marta de Castro-Miró, Juliana Ferraz Sallum, Jaume Català-Mora, Rebeca Valero

Genes (Basel)· March 2020

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Aberrant Splicing Events Associated to Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1.
Rebeca Valero, Marta de Castro-Miró, Sofía Jiménez-Ochoa, Juan José Rodríguez-Ezcurra, Gemma Marfany

Genes (Basel)· September 2019

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The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.
Floriana Della Ragione, Anna Tiunova, Marcella Vacca, Maria Strazzullo, Eva González, Rebeca Valero

Gene· May 2006

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Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.
Nobuhiko Okamoto, Rolando Del Maestro, Rebeca Valero, Eugenia Monros, Pilar Poo

J Hum Genet· July 2004

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