Showing 1 - 15 results of 15 for search 'Guillermo Antiñolo', query time: 0.04s
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Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14 by Javier Sánchez, Lutgardo García-Díaz, David Chinchón, Guillermo Antiñolo
Published 2012-01-01
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Bioinformatics Prediction for Network-Based Integrative Multi-Omics Expression Data Analysis in Hirschsprung Disease by Helena Lucena-Padros, Nereida Bravo-Gil, Cristina Tous, Elena Rojano, Pedro Seoane-Zonjic, Raquel María Fernández, Juan A. G. Ranea, Guillermo Antiñolo, Salud Borrego
Published 2024-01-01
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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene by Elena Fernández-Suárez, María González-del Pozo, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marcela Mena, Belén de la Morena-Barrio, Javier Corral, Salud Borrego, Guillermo Antiñolo
Published 2024-05-01
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Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant by Elena Fernández-Suárez, Elena Fernández-Suárez, María González-del Pozo, María González-del Pozo, Alejandro García-Núñez, Cristina Méndez-Vidal, Cristina Méndez-Vidal, Marta Martín-Sánchez, Marta Martín-Sánchez, José Manuel Mejías-Carrasco, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Enrique Rodríguez-de la Rúa, Enrique Rodríguez-de la Rúa, Salud Borrego, Salud Borrego, Guillermo Antiñolo, Guillermo Antiñolo
Published 2023-07-01
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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo
Published 2025-01-01
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