Suchergebnisse - "Cortón, Marta"

PubPharm (6)

1

Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

enthalten in: Journal of medical genetics | 2021

von Olivier, G. | Corton, M. | Intartaglia, D. | +21

2

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

3

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families

enthalten in: PloS one | 2018

von Pérez-Carro, R. | Blanco-Kelly, F. | Galbis-Martínez, L. | +10

4

Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

enthalten in: Scientific reports | 2016

von Perez-Carro, R. | Corton, M. | Sánchez-Navarro, I. | +14

ErratumIn: Sci Rep. 2016 Apr 22;6:24843. - PMID 27102970

5

Mutations in IMPG1 cause vitelliform macular dystrophies

enthalten in: American journal of human genetics | 2013

von Manes, G. | Meunier, I. | Avila-Fernández, A. | +25

6

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis

enthalten in: PloS one | 2013

von Corton, M. | Nishiguchi, K. | Avila-Fernández, A. | +5

ErratumIn: PLoS One. 2016;11(3):e0153121. - PMID 27031522

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