Cristina Santos

Publication Activity (10 Years)

Years Active: 2015-2023
Publications (10 Years): 4

Top Topics

Peritoneal Dialysis

Chronic Kidney Disease

Genome Wide Analysis

Ejection Fraction

Top Venues

Ophthalmic genetics

BMJ case reports

Hospital Prof. Doutor Fernando Fonseca

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Prof. Doutor Fernando Fonseca Jan 1o 2011 - Oct 15o 2015

Portugal

Resident :: Ophthalmology

Publications

Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho-Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho-Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho-Santos
Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy. Ophthalmic genetics 43 (4) (2022)
Cristina Santos, Mário Ramalho, Inês Coutinho, Susana Teixeira
Photopsia revealing a retinocytoma. BMJ case reports 2015 (2015)