Suchergebnisse - "Martín-Merida, Inmaculada"

PubPharm (21)

1

PRPH2-Related Retinal Dystrophies : Mutational Spectrum in 103 Families from a Spanish Cohort

enthalten in: International journal of molecular sciences | 2024

von Fernández-Caballero, L. | Martín-Merida, I. | Blanco-Kelly, F. | +21

2

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

enthalten in: American journal of ophthalmology | 2023

von Rodilla, C. | Martín-Merida, I. | Blanco-Kelly, F. | +19

3

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders

enthalten in: European journal of ophthalmology | 2022

von Lorenzana-Blanco, N. | Jimenez-Rolando, B. | Garcia-Sandoval, B. | +7

4

Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies

enthalten in: International journal of molecular sciences | 2022

von Iancu, I. | Perea-Romero, I. | Núñez-Moreno, G. | +12

5

Aggregated genomic data as cohort-specific allelic frequencies can boost variants and genes prioritization in non-solved cases of inherited retinal dystrophies

enthalten in: bioRxiv.org | 2022

von Iancu, I. | Perea-Romero, I. | Núñez-Moreno, G. | +12

6

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome

enthalten in: NPJ genomic medicine | 2022

von Perea-Romero, I. | Solarat, C. | Blanco-Kelly, F. | +15

7

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies

enthalten in: Investigative ophthalmology & visual science | 2022

von Del Pozo-Valero, M. | Riveiro-Alvarez, R. | Martin-Merida, I. | +10

8

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

enthalten in: NPJ genomic medicine | 2022

von Romero, R. | de la Fuente, L. | Del Pozo-Valero, M. | +13

9

RPE65-related retinal dystrophy : Mutational and phenotypic spectrum in 45 affected patients

enthalten in: Experimental eye research | 2021

von Lopez-Rodriguez, R. | Lantero, E. | Blanco-Kelly, F. | +13

10

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa

enthalten in: Experimental eye research | 2021

von Beigi, F. | Del Pozo-Valero, M. | Martin-Merida, I. | +3