Search Results - Damián-Verde, Alejandra

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  1. 1
    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 by Iancu, Ionut-Florin, Perea-Romero, Irene, Núñez-Moreno, Gonzalo, de la Fuente, Lorena, Romero, Raquel, Ávila-Fernandez, Almudena, Trujillo-Tiebas, María José, Riveiro-Álvarez, Rosa, Almoguera, Berta, Martín-Mérida, Inmaculada, Del Pozo-Valero, Marta, Damián-Verde, Alejandra, Cortón, Marta, Ayuso, Carmen, Minguez, Pablo

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    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity by Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

    Published in Ophthalmic genetics
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    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

    Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity by Holt, Richard, Goudie, David, Verde, Alejandra Damián, Gardham, Alice, Ramond, Francis, Putoux, Audrey, Sarkar, Ajoy, Clowes, Virginia, Clayton-Smith, Jill, Banka, Siddharth, Cortazar Galarza, Laura, Thuret, Gilles, Ubeda Erviti, Marta, Zurutuza Ibarguren, Ane, Sáez Villaverde, Raquel, Tamayo Durán, Alejandra, Ayuso, Carmen, Bax, Dorine A, Plaisancie, Julie, Corton, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K

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