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Riveiro-Alvarez, Rosa
149  Ergebnisse:
Personensuche X
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1

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 1..:

Fernández-Caballero, Lidia ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
International Journal of Molecular Sciences.  25 (2024)  5 - p. 2913 , 2024
Link: https://doi.org/10.3390/..
 
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2

Methylation analysis by targeted bisulfite sequencing in la..:

Carrizosa-Molina, Tamara ; Casillas-Díaz, Natalia ; Pérez-Nadador, Iris...
Clinical Epigenetics.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D..:

Rodilla, Cristina ; Martín-Merida, Inmaculada ; Blanco-Kelly, Fiona...
American Journal of Ophthalmology.  254 (2023)  - p. 87-103 , 2023
Link: https://doi.org/10.1016/..
 
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4

Impact of Next Generation Sequencing in Unraveling the Gene..:

Del Pozo-Valero, Marta ; Riveiro-Alvarez, Rosa ; Martin-Merida, Inmaculada...
Investigative Opthalmology & Visual Science.  63 (2022)  2 - p. 11 , 2022
Link: https://doi.org/10.1167/..
 
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5

An evaluation of pipelines for DNA variant detection can gu..:

Romero, Raquel ; de la Fuente, Lorena ; Del Pozo-Valero, Marta...
npj Genomic Medicine.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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6

Aggregated Genomic Data as Cohort-Specific Allelic Frequenc..:

Iancu, Ionut-Florin ; Perea-Romero, Irene ; Núñez-Moreno, Gonzalo...
International Journal of Molecular Sciences.  23 (2022)  15 - p. 8431 , 2022
Link: https://doi.org/10.3390/..
 
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7

Attention Deficit Hyperactivity and Autism Spectrum Disorde..:

Sanchez-Jimeno, Carolina ; Blanco-Kelly, Fiona ; López-Grondona, Fermina...
Genes.  12 (2021)  9 - p. 1360 , 2021
Link: https://doi.org/10.3390/..
 
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8

Prioritizing variants of uncertain significance for reclass..:

Iancu, Ionut-Florin ; Avila-Fernandez, Almudena ; Arteche, Ana...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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9

RPE65-related retinal dystrophy: Mutational and phenotypic ..:

Lopez-Rodriguez, Rosario ; Lantero, Esther ; Blanco-Kelly, Fiona...
Experimental Eye Research.  212 (2021)  - p. 108761 , 2021
Link: https://doi.org/10.1016/..
 
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10

Author Correction: Genetic landscape of 6089 inherited reti..:

Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F....
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

Comparison of the diagnostic yield of aCGH and genome-wide ..:

Martinez-Granero, Francisco ; Blanco-Kelly, Fiona ; Sanchez-Jimeno, Carolina...
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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12

Genetic landscape of 6089 inherited retinal dystrophies aff..:

Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F....
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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13

Genotype–Phenotype Correlations in a Spanish Cohort of 506 ..:

Del Pozo-Valero, Marta ; Riveiro-Alvarez, Rosa ; Blanco-Kelly, Fiona...
American Journal of Ophthalmology.  219 (2020)  - p. 195-204 , 2020
Link: https://doi.org/10.1016/..
 
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14

Expanded Phenotypic Spectrum of Retinopathies Associated wi..:

Del Pozo-Valero, Marta ; Martin-Merida, Inmaculada ; Jimenez-Rolando, Belen...
American Journal of Ophthalmology.  207 (2019)  - p. 204-214 , 2019
Link: https://doi.org/10.1016/..
 
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15

Combining targeted panel-based resequencing and copy-number..:

Sanchez-Navarro, Iker ; R. J. da Silva, Luciana ; Blanco-Kelly, Fiona...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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