Suchergebnisse - "Cortón, Marta"

PubPharm (6)

1

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

2

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

3

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

enthalten in: Scientific reports | 2021

von Perea-Romero, I. | Gordo, G. | Iancu, I. | +114

ErratumIn: Sci Rep. 2021 May 10;11(1):10340. - PMID 33972629

4

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa : A Comprehensive Analysis of 258 Spanish Families

enthalten in: Investigative ophthalmology & visual science | 2018

von Martin-Merida, I. | Aguilera-Garcia, D. | Fernandez-San, J. | +10

5

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia

enthalten in: The British journal of ophthalmology | 2015

von Chassine, T. | Bocquet, B. | Daien, V. | +12

6

Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients

enthalten in: Investigative ophthalmology & visual science | 2015

von Fernandez-San Jose, P. | Corton, M. | Blanco-Kelly, F. | +11

CommentIn: Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2183. - PMID 26066418

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