http://orcid.org/0000-0002-0733-9950

Up a level
Export as [feed] RSS
Group by: Date | Item Type | Refereed | No Grouping
Jump to: 2024 | 2023

2024

Cortinhal, Telmo; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, José; Sousa, Ana Berta; Peter, Virginie G; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luísa; Saraiva, Jorge; Soares, Célia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luísa Coutinho; Marques, João Pedro (2024). Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology, 262(6), pp. 1883-1897. Springer 10.1007/s00417-023-06360-2

2023

Peter, Virginie G; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Pescini Gobert, Rosanna; Rodrigues, Raquel; Custódio, Sónia; Paris, Liliana P; Sousa, Ana Berta; Coutinho Santos, Luisa; Rivolta, Carlo (2023). 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), pgad043. Oxford University Press 10.1093/pnasnexus/pgad043

Provide Feedback