Showing 1 - 7 results of 7 for search 'Blanca García-Sandoval', query time: 0.04s
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Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases. by Fiona Blanco-Kelly, María García Hoyos, Miguel Angel Lopez Martinez, Maria Isabel Lopez-Molina, Rosa Riveiro-Alvarez, Patricia Fernandez-San Jose, Almudena Avila-Fernandez, Marta Corton, Jose M Millan, Blanca García Sandoval, Carmen Ayuso
Published 2016-01-01
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Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned. by Berta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, Yichuan Liu, Michael March, Renata Pellegrino, Ryan Golhar, Marta Corton, Fiona Blanco-Kelly, Maria Isabel López-Molina, Blanca García-Sandoval, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Jianguo Zhang, Brendan Keating, Xun Xu, Hakon Hakonarson, Carmen Ayuso
Published 2015-01-01
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Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome by Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly, Iker Sanchez-Navarro, Brais Bea-Mascato, Eduardo Martin-Salazar, Isabel Lorda-Sanchez, Saoud Tahsin Swafiri, Almudena Avila-Fernandez, Inmaculada Martin-Merida, Maria Jose Trujillo-Tiebas, Ester Carreño, Belen Jimenez-Rolando, Blanca Garcia-Sandoval, Pablo Minguez, Marta Corton, Diana Valverde, Carmen Ayuso
Published 2022-07-01
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A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. by Rocio Sanchez-Alcudia, Maria Garcia-Hoyos, Miguel Angel Lopez-Martinez, Noelia Sanchez-Bolivar, Olga Zurita, Ascension Gimenez, Cristina Villaverde, Luciana Rodrigues-Jacy da Silva, Marta Corton, Raquel Perez-Carro, Simona Torriano, Vasiliki Kalatzis, Carlo Rivolta, Almudena Avila-Fernandez, Isabel Lorda, Maria J Trujillo-Tiebas, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Fiona Blanco-Kelly, Rosa Riveiro-Alvarez, Carmen Ayuso
Published 2016-01-01
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<i>PRPH2</i>-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort by Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso
Published 2024-03-01
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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications by Irene Perea-Romero, Gema Gordo, Ionut F. Iancu, Marta Del Pozo-Valero, Berta Almoguera, Fiona Blanco-Kelly, Ester Carreño, Belen Jimenez-Rolando, Rosario Lopez-Rodriguez, Isabel Lorda-Sanchez, Inmaculada Martin-Merida, Lucia Pérez de Ayala, Rosa Riveiro-Alvarez, Elvira Rodriguez-Pinilla, Saoud Tahsin-Swafiri, Maria J. Trujillo-Tiebas, The ESRETNET Study Group, The ERDC Study Group, The Associated Clinical Study Group, Blanca Garcia-Sandoval, Pablo Minguez, Almudena Avila-Fernandez, Marta Corton, Carmen Ayuso
Published 2021-01-01
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