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De Pozo-Valero, Marta l
455  Ergebnisse:
Personensuche X
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1

Resolving the dark matter of ABCA4 for 1054 Stargardt disea..:

Khan, Mubeen ; Cornelis, Stéphanie S. ; De Pozo-Valero, Marta l...
Genetics in Medicine.  22 (2020)  7 - p. 1235-1246 , 2020
Link: https://doi.org/10.1038/..
 
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2

Combining a prioritization strategy and functional studies ..:

Dueñas Rey, Alfredo ; del Pozo Valero, Marta ; Bouckaert, Manon...
Genome Medicine.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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3

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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4

ABCA4 c.6480-35A>G, a novel branchpoint variant associated ..:

Rodríguez-Hidalgo, María ; de Bruijn, Suzanne E. ; Corradi, Zelia...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Prioritization of New Candidate Genes for Rare Genetic Dise..:

de la Fuente, Lorena ; Del Pozo-Valero, Marta ; Perea-Romero, Irene...
International Journal of Molecular Sciences.  24 (2023)  2 - p. 1661 , 2023
Link: https://doi.org/10.3390/..
 
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6

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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7

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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8

Presence of rare potential pathogenic variants in subjects ..:

López-Rodríguez, Rosario ; Del Pozo-Valero, Marta ; Corton, Marta...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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9

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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10

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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11

Age-dependent association of clonal hematopoiesis with COVI..:

Del Pozo-Valero, Marta ; Corton, Marta ; López-Rodríguez, Rosario...
GeroScience.  45 (2022)  1 - p. 543-553 , 2022
Link: https://doi.org/10.1007/..
 
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12

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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13

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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14

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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15

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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