Ana-Berta Sousa (Ana Berta Sousa)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 8

Top Topics

Intellectual Disability

Psychometric Properties

Ejection Fraction

Patient Reported Outcomes

Top Venues

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Ophthalmic genetics

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

Publications

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)
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)