檢索結果 - Isabel Lorda‐Sánchez

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  1. 1
    Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin

    Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin 由 Sara Perlado, Ana Bustamante‐Aragonés, Marta Donas, Isabel Lorda‐Sánchez, Javier Óscar Garay Plaza, Marta Rodríguez de Alba

    出版 2016
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  2. 2
    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

    Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders 由 Francisco Martínez‐Granero, Fiona Blanco‐Kelly, C. Sánchez-Jimeno, Almudena Ávila‐Fernández, Ana Arteche‐López, Ana Bustamante‐Aragonés, Cristina Rodilla, Elvira Rodríguez‐Pinilla, Rosa Riveiro-Álvarez, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Carmen Ayuso, Marta Rodríguez de Alba, Isabel Lorda‐Sánchez, Berta Almoguera

    出版 2021
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  3. 3
    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

    Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies 由 Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu

    出版 2017
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  4. 4
    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications 由 Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero, Berta Almoguera, Fiona Blanco‐Kelly, Ester Carreño, Belén Jimenez‐Rolando, Rosario López‐Rodríguez, Isabel Lorda‐Sánchez, Inmaculada Martín-Mérida, Lucía Pérez de Ayala, Rosa Riveiro-Álvarez, Elvira Rodríguez‐Pinilla, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Ana Bustamante‐Aragonés, Rocio Cardero‐Merlo, Ruth Fernández‐Sánchez, J. Gallego‐Merlo, Ines Garcia-Vara, Ascensión Gimenez-Pardo, Laura Horcajada-Burgos, Fernando Infantes‐Barbero, Esther Lantero, Miguel Ángel López-Martínez, Andrea Martínez‐Ramas, Lorena Ondo, Marta Rodríguez de Alba, C. Sánchez-Jimeno, C. Vélez-Monsalve, Cristina Villaverde, Olga Zurita, Domingo Aguilera‐Garcia, Jana Aguirre-Lambán, Ana Arteche‐López, Diego Cantalapiedra, Patrícia José, Liliana Galbis-Martinez, Maria García‐Hoyos, Carlos Lombardia, María Isabel López-Molina, Raquel Pérez-Carro, Luciana Rodrigues Jacy da Silva, Carmen Ramos, Rocío Sánchez-Alcudia, Iker Sánchez‐Navarro, Sorina D. Tatu, Elena Vallespín, Elena Aller, Sara Bernal, Maria J. Gamundi, Gema García‐García, Inmaculada Hernan, Teresa Jaijo, Guillermo Antiñolo, Montserrat Baiget, Miguel Carballo, José M. Millán, Diana Valverde, Rando Allikmets, Sandro Banfi, Frans P.M. Cremers, Rob W.J. Collin, Elfride De Baere, Hákon Hákonarson, Susanne Kohl, Carlo Rivolta, Dror Sharon, María Concepción Alonso‐Cerezo, María Juliana Ballesta‐Martínez, Sergi Beltrán, Carmen Benito López, Jaume Catalá‐Mora, Claudio Catalli, Carmen Cotarelo-Pérez, Miguel Fernández‐Burriel, Ana Fontalba-Romero, Enrique Galán‐Gómez, María García‐Barcina, Loida M. Garcia-Cruz, Blanca Gener, Belén Gil-Fournier, Nancy Govea, Encarna Guillén‐Navarro, I. Hernando Acero, Cristina Irigoyen, Silvia Izquierdo Álvarez, Isabel Llano‐Rivas, Maria A. López-Ariztegui, Vanesa López‐González, Fermina Lopez-Grondona, Loreto Martorell, Pilar Mendez-Perez, María Moreno‐Igoa, Raluca Oancea-Ionescu, Francesc Palau, Guiomar Pérez de Nanclares, Feliciano J. Ramos-Fuentes, Raquel Rodríguez‐López

    出版 2021
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