Cristina Santos
7PUBLICATIONS
194CO-AUTHORS
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Publications (7)
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|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova
|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie
|Jan 08, 2024
Genetic profile of syndromic retinitis pigmentosa in Portugal.Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira
|Mar 13, 2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.Virginie G Peter, Karolina Kaminska, Cristina Santos
|Jul 29, 2022
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy.Cristina Santos, Andreia Almeida, Rita Pinto
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Frequent Collaborators
6 joint publications
Luísa Coutinho-Santos
6 joint publications
Carlo Rivolta
5 joint publications
Karolina Kaminska
5 joint publications
Ana-Berta Sousa
3 joint publications
Virginie G Peter
2 joint publications
Mathieu Quinodoz
2 joint publications
Kim Rodenburg
2 joint publications
Mirella T S Barboni
2 joint publications
Sandro Banfi
2 joint publications
K Bailey Freund
