Showing 1 - 9 results of 9 for search 'Rosa Riveiro-Alvarez', query time: 0.06s Refine Results
  1. 1
    Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

    Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. by Marta Corton, Koji M Nishiguchi, Almudena Avila-Fernández, Konstantinos Nikopoulos, Rosa Riveiro-Alvarez, Sorina D Tatu, Carmen Ayuso, Carlo Rivolta

    Published 2013-01-01
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  2. 2
    Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort

    Methylation analysis by targeted bisulfite sequencing in large for gestational age (LGA) newborns: the LARGAN cohort by Tamara Carrizosa-Molina, Natalia Casillas-Díaz, Iris Pérez-Nadador, Claudia Vales-Villamarín, Miguel Ángel López-Martínez, Rosa Riveiro-Álvarez, Larry Wilhelm, Rita Cervera-Juanes, Carmen Garcés, Alejandro Lomniczi, Leandro Soriano-Guillén

    Published 2023-12-01
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  3. 3
    Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies

    Prioritizing variants of uncertain significance for reclassification using a rule-based algorithm in inherited retinal dystrophies by Ionut-Florin Iancu, Almudena Avila-Fernandez, Ana Arteche, Maria Jose Trujillo-Tiebas, Rosa Riveiro-Alvarez, Berta Almoguera, Inmaculada Martin-Merida, Marta Del Pozo-Valero, Irene Perea-Romero, Marta Corton, Pablo Minguez, Carmen Ayuso

    Published 2021-02-01
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  4. 4
    Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

    Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. by Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso

    Published 2016-01-01
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  5. 5
    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders by Francisco Martinez-Granero, Fiona Blanco-Kelly, Carolina Sanchez-Jimeno, Almudena Avila-Fernandez, Ana Arteche, Ana Bustamante-Aragones, Cristina Rodilla, Elvira Rodríguez-Pinilla, Rosa Riveiro-Alvarez, Saoud Tahsin-Swafiri, Maria Jose Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda-Sanchez, Berta Almoguera

    Published 2021-03-01
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  6. 6
    An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

    An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases by Raquel Romero, Lorena de la Fuente, Marta Del Pozo-Valero, Rosa Riveiro-Álvarez, María José Trujillo-Tiebas, Inmaculada Martín-Mérida, Almudena Ávila-Fernández, Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Alejandra Damián, Cristina Rodilla, Berta Almoguera, Marta Cortón, Carmen Ayuso, Pablo Mínguez

    Published 2022-01-01
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  7. 7
    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

    A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. by Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso

    Published 2016-01-01
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  8. 8
    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso

    Published 2021-01-01
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  9. 9
    Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso

    Published 2021-05-01
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