An Update on the Genetics of Usher Syndrome
Millán, José M., Aller, Elena, Jaijo, Teresa, Blanco-Kelly, Fiona, Gimenez-Pardo, Ascensión, Ayuso, Carmen
Published in Journal of ophthalmology (01.01.2011)
Published in Journal of ophthalmology (01.01.2011)
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (15.01.2021)
Published in Scientific reports (15.01.2021)
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Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications
Perea-Romero, Irene, Gordo, Gema, Iancu, Ionut F., Del Pozo-Valero, Marta, Almoguera, Berta, Blanco-Kelly, Fiona, Carreño, Ester, Jimenez-Rolando, Belen, Lopez-Rodriguez, Rosario, Lorda-Sanchez, Isabel, Martin-Merida, Inmaculada, Pérez de Ayala, Lucia, Riveiro-Alvarez, Rosa, Rodriguez-Pinilla, Elvira, Tahsin-Swafiri, Saoud, Trujillo-Tiebas, Maria J., Garcia-Sandoval, Blanca, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Published in Scientific reports (10.05.2021)
Published in Scientific reports (10.05.2021)
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Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis
Riveiro-Alvarez, Rosa, Trujillo-Tiebas, Maria-Jose, Gimenez-Pardo, Ascension, Garcia-Hoyos, Maria, Lopez-Martinez, Miguel-Angel, Aguirre-Lamban, Jana, Garcia-Sandoval, Blanca, Vazquez-Fernandez del Pozo, Silvia, Cantalapiedra, Diego, Avila-Fernandez, Almudena, Baiget, Montserrat, Ramos, Carmen, Ayuso, Carmen
Published in Investigative ophthalmology & visual science (01.09.2009)
Published in Investigative ophthalmology & visual science (01.09.2009)
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Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR
Riveiro-Alvarez, Rosa, Trujillo-Tiebas, Maria José, Gimenez-Pardo, Ascension, Garcia-Hoyos, Maria, Cantalapiedra, Diego, Lorda-Sanchez, Isabel, Rodriguez de Alba, Marta, Ramos, Carmen, Ayuso, Carmen
Published in Molecular vision (02.09.2005)
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Published in Molecular vision (02.09.2005)
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Phenotypic variation in a family affected by autosomal dominant retinal dystrophy caused by the Gly208Asp mutation in the RDS peripherin gene
Trujillo Tiebas, María José, Giménez Pardo, Ascensión, García Sandoval, Blanca, Ayuso García, Carmen
Published in Medicina clínica (18.05.2002)
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Published in Medicina clínica (18.05.2002)
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