Hasil Pencarian - Ionut-Florin Iancu

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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 oleh 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

    Diterbitkan 2021-02-01
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  2. 2
    Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

    Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies oleh Ionut-Florin Iancu, Irene Perea-Romero, Gonzalo Núñez-Moreno, Lorena de la Fuente, Raquel Romero, Almudena Ávila-Fernandez, María José Trujillo-Tiebas, Rosa Riveiro-Álvarez, Berta Almoguera, Inmaculada Martín-Mérida, Marta Del Pozo-Valero, Alejandra Damián-Verde, Marta Cortón, Carmen Ayuso, Pablo Minguez

    Diterbitkan 2022-07-01
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  3. 3
    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 oleh 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

    Diterbitkan 2022-01-01
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