Rezultati - Martin-Merida, Inmaculada

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  1. 1
    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 od Iancu, Ionut-Florin, Avila-Fernandez, Almudena, Arteche, Ana, Trujillo-Tiebas, Maria Jose, Riveiro-Alvarez, Rosa, Almoguera, Berta, Martin-Merida, Inmaculada, Del Pozo-Valero, Marta, Perea-Romero, Irene, Corton, Marta, Minguez, Pablo, Ayuso, Carmen

    Izdano 2021
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  2. 2
    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

    Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families od Pérez-Carro, Raquel, Blanco-Kelly, Fiona, Galbis-Martínez, Lilián, García-García, Gema, Aller, Elena, García-Sandoval, Blanca, Mínguez, Pablo, Corton, Marta, Mahíllo-Fernández, Ignacio, Martín-Mérida, Inmaculada, Avila-Fernández, Almudena, Millán, José M., Ayuso, Carmen

    Izdano 2018
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  3. 3
    Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

    Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies od Del Pozo-Valero, Marta, Riveiro-Alvarez, Rosa, Martin-Merida, Inmaculada, Blanco-Kelly, Fiona, Swafiri, Saoud, Lorda-Sanchez, Isabel, Trujillo-Tiebas, Maria José, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Corton, Marta, Avila-Fernandez, Almudena, Ayuso, Carmen

    Izdano 2022
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  4. 4
    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 od Romero, Raquel, de la Fuente, Lorena, Del Pozo-Valero, Marta, Riveiro-Álvarez, Rosa, Trujillo-Tiebas, María José, Martín-Mérida, Inmaculada, Ávila-Fernández, Almudena, Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, Damián, Alejandra, Rodilla, Cristina, Almoguera, Berta, Cortón, Marta, Ayuso, Carmen, Mínguez, Pablo

    Izdano 2022
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  5. 5
    Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

    Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome od Perea-Romero, Irene, Solarat, Carlos, Blanco-Kelly, Fiona, Sanchez-Navarro, Iker, Bea-Mascato, Brais, Martin-Salazar, Eduardo, Lorda-Sanchez, Isabel, Swafiri, Saoud Tahsin, Avila-Fernandez, Almudena, Martin-Merida, Inmaculada, Trujillo-Tiebas, Maria Jose, Carreño, Ester, Jimenez-Rolando, Belen, Garcia-Sandoval, Blanca, Minguez, Pablo, Corton, Marta, Valverde, Diana, Ayuso, Carmen

    Izdano 2022
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  6. 6
    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 od 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

    Izdano 2021
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  7. 7
    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 od 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

    Izdano 2021
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