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Journal Articles (3)

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Investigative Ophthalmology & Visual Science (3)

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Retina (2)
Genetics (1)

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Genetics (3)
Retina (2)

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family (3)
mutation (3)
spanish (3)
genes (2)
exanthema (1)
eye (1)
genetics (1)
genotype determination (1)
haplotypes (1)
leber's amaurosis (1)

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Genetics April 2015

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

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Patricia Fernandez-San Jose; Marta Corton; Fiona Blanco-Kelly; Almudena Avila-Fernandez; Miguel Angel Lopez-Martinez; Iker Sanchez-Navarro; Rocio Sanchez-Alcudia; Raquel Perez-Carro; Olga Zurita; Noelia Sanchez-Bolivar; Maria Isabel Lopez-Molina; Blanca Garcia-Sandoval; Rosa Riveiro-Alvarez; Carmen Ayuso
TAGS: family, massively-parallel genome sequencing, mutation, retinitis pigmentosa, spanish, genes
Invest. Ophthalmol. Vis. Sci.. 2015; 56(4):2173-2182. doi: https://doi.org/10.1167/iovs.14-16178

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Retina September 2009

Correlation of Genetic and Clinical Findings in Spanish Patients with X-linked Juvenile Retinoschisis

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Rosa Riveiro-Alvarez; Maria-Jose Trujillo-Tiebas; Ascension Gimenez-Pardo; Maria Garcia-Hoyos; Miguel-Angel Lopez-Martinez; Jana Aguirre-Lamban; Blanca Garcia-Sandoval; Silvia Vazquez-Fernandez del Pozo; Diego Cantalapiedra; Almudena Avila-Fernandez; Montserrat Baiget; Carmen Ramos; Carmen Ayuso
TAGS: family, genetics, haplotypes, mutation, spanish, x-linked retinoschisis, exanthema, eye, genes
Invest. Ophthalmol. Vis. Sci.. 2009; 50(9):4342-4350. doi: https://doi.org/10.1167/iovs.09-3418

Retina December 2007

Mutation Screening of 299 Spanish Families with Retinal Dystrophies by Leber Congenital Amaurosis Genotyping Microarray

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Elena Vallespin; Diego Cantalapiedra; Rosa Riveiro-Alvarez; Robert Wilke; Jana Aguirre-Lamban; Almudena Avila-Fernandez; Miguel Angel Lopez-Martinez; Ascension Gimenez; Maria Jose Trujillo-Tiebas; Carmen Ramos; Carmen Ayuso
TAGS: family, genotype determination, leber's amaurosis, mutation, spanish, retinal dystrophies, screening
Invest. Ophthalmol. Vis. Sci.. 2007; 48(12):5653-5661. doi: https://doi.org/10.1167/iovs.07-0007

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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