検索結果 1 - 3 結果 / 3 検索語 'María González-del Pozo', 処理時間: 0.03秒 結果の絞り込み
  1. 1
    Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene

    Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene 著者: 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

    出版事項 2024-05-01
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  2. 2
    Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant

    Expanding the phenotype of THRB: a range of macular dystrophies as the major clinical manifestations in patients with a dominant splicing variant 著者: 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

    出版事項 2023-07-01
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  3. 3
    A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice

    A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice 著者: 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

    出版事項 2025-01-01
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