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Blanco‐Kelly, Fiona
111  results:
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1

Genetic background of congenital aniridia:

Damian, Alejandra ; Blanco‐Kelly, Fiona ; Tamayo, Alejandra...
Acta Ophthalmologica.  102 (2024)  S279 - p. , 2024
Link: https://doi.org/10.1111/..
 
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2

Biallelic intragenic tandem duplication of CPLANE1 in Joube..:

Martínez‐Granero, Francisco ; Martínez‐Cayuelas, Elena ; Rodilla, Cristina...
Clinical Genetics.  103 (2023)  4 - p. 448-452 , 2023
Link: https://doi.org/10.1111/..
 
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3

Genotype–phenotype correlation in patients with Usher syndr..:

Galbis‐Martínez, Lilián ; Blanco‐Kelly, Fiona ; García‐García, Gema...
Acta Ophthalmologica.  99 (2021)  8 - p. 922-930 , 2021
Link: https://doi.org/10.1111/..
 
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4

Prevalence of Rhodopsin mutations in autosomal dominant Ret..:

Fernandez‐San Jose, Patricia ; Blanco‐Kelly, Fiona ; Corton, Marta...
Acta Ophthalmologica.  93 (2014)  1 - p. , 2014
Link: https://doi.org/10.1111/..
 
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5

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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6

Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Mi..:

Toribio-Fernández, Raquel ; Tristão-Pereira, Catarina ; Carlos Silla-Castro, Juan...
Circulation Research.  134 (2024)  4 - p. 411-424 , 2024
Link: https://doi.org/10.1161/..
 
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7

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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8

Clinical and genetic analysis further delineates the phenot..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics.  31 (2023)  10 - p. 1175-1180 , 2023
Link: https://doi.org/10.1038/..
 
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9

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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10

Correction: Clinical and genetic analysis further delineate..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics.  31 (2023)  10 - p. 1196-1198 , 2023
Link: https://doi.org/10.1038/..
 
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11

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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12

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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13

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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14

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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15

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Pati..:

Bea-Mascato, Brais ; Solarat, Carlos ; Perea-Romero, Irene...
Genes.  12 (2021)  2 - p. 282 , 2021
Link: https://doi.org/10.3390/..
 
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