Showing 1 - 5 results of 5 for search 'Alejandra Damian', query time: 0.02s
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Assessment of the Phytochemical and Nutrimental Composition of Dark Chia Seed (<i>Salvia hispánica</i> L.) by Avilene Rodríguez Lara, María Dolores Mesa-García, Karla Alejandra Damián Medina, Rosa Quirantes Piné, Rafael A. Casuso, Antonio Segura Carretero, Jesús Rodríguez Huertas
Published 2021-12-01
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Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital Aniridia by Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Published 2023-01-01
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3
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases by Alejandra Damián, Gonzalo Núñez-Moreno, Claire Jubin, Alejandra Tamayo, Marta Rodríguez de Alba, Cristina Villaverde, Cédric Fund, Marc Delépine, Aurélie Leduc, Jean François Deleuze, Pablo Mínguez, Carmen Ayuso, Marta Corton
Published 2023-06-01
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4
Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the <i>NHS</i> Gene in a Patient with Syndromic Cataracts by Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Cortón
Published 2021-11-01
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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies by 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
Published 2022-07-01
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