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Martin-Merida, Inmaculada
134  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

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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3

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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4

Application of multicolour reflectance imaging for the char..:

Lorenzana-Blanco, Natalia ; Jimenez-Rolando, Belen ; Garcia-Sandoval, Blanca...
European Journal of Ophthalmology.  33 (2022)  2 - p. 735-744 , 2022
Link: https://doi.org/10.1177/..
 
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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

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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7

Allelic overload and its clinical modifier effect in Bardet..:

Perea-Romero, Irene ; Solarat, Carlos ; Blanco-Kelly, Fiona...
npj Genomic Medicine.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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8

Apparent but unconfirmed digenism in an Iranian consanguine..:

Beigi, Fahimeh ; Del Pozo-Valero, Marta ; Martin-Merida, Inmaculada...
Experimental Eye Research.  207 (2021)  - p. 108533 , 2021
Link: https://doi.org/10.1016/..
 
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9

Homozygous females for a X-linked RPGR-ORF15 mutation in an..:

Beigi, Fahimeh ; Del Pozo-Valero, Marta ; Martin-Merida, Inmaculada...
Experimental Eye Research.  211 (2021)  - p. 108714 , 2021
Link: https://doi.org/10.1016/..
 
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10

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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11

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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12

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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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

Toward the Mutational Landscape of Autosomal Dominant Retin..:

Martin-Merida, Inmaculada ; Aguilera-Garcia, Domingo ; Jose, Patricia Fernandez-San...
Investigative Opthalmology & Visual Science.  59 (2018)  6 - p. 2345 , 2018
Link: https://doi.org/10.1167/..
 
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