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Results 1-24 of 24 (Search time: 0.016 seconds).
| Issue Date | Title | Author(s) | Type | Access | |
|---|---|---|---|---|---|
| 1 | 25-Jan-2012 | Abnormal achromatic and chromatic contrast sensitivity in neurofibromatosis type 1 | Ribeiro, Maria José ; Violante, Inês R ; Bernardino, Inês ; Ramos, Fabiana ; Saraiva, Jorge ; Reviriego, Pablo ; Upadhyaya, Meena ; Silva, Eduardo D. ; Castelo-Branco, Miguel | article | openAccess |
| 2 | 2012 | Abnormal brain activation in neurofibromatosis type 1: a link between visual processing and the default mode network | Violante, Inês R. ; Ribeiro, Maria J. ; Cunha, Gil ; Bernardino, Inês ; Duarte, João V. ; Ramos, Fabiana ; Saraiva, Jorge ; Silva, Eduardo ; Castelo-Branco, Miguel | article | openAccess |
| 3 | 21-Feb-2014 | Abnormal late visual responses and alpha oscillations in neurofibromatosis type 1: a link to visual and attention deficits | Ribeiro, Maria J. ; Almeida, Otília C. d' ; Ramos, Fabiana ; Saraiva, Jorge ; Silva, Eduardo D. ; Castelo-Branco, Miguel | article | openAccess |
| 4 | 22-Jun-2016 | Accelerated age-related olfactory decline among type 1 Usher patients | Ribeiro, João Carlos; Oliveiros, Bárbara ; Pereira, Paulo ; António, Natália ; Hummel, Thomas; Paiva, António ; Silva, Eduardo D. | article | openAccess |
| 5 | 2011 | Autosomal recessive nanophthalmos : MFRP mutation and phenotypical spectrum | Breda, João Filipe Barbosa | masterThesis | openAccess |
| 6 | 17-Jul-2014 | Characterization of a portuguese LCA family secondary to homozygous RPE65 mutation | Quintas, Bruna Filipa Gomes Botelho | masterThesis | openAccess |
| 7 | 2014 | Clinical and molecular characterization of infantile neuroaxonal dystrophy patients | Silva, Nuno Miguel Barata Gaião Cunha da | masterThesis | openAccess |
| 8 | 2011 | Clinical assessment of rod-cone dystrophy patients carrying rhodopsin mutations | Beato, João Nuno Bicho | masterThesis | openAccess |
| 9 | 2016 | Cultural Adaptation of the Portuguese Version of the "Sniffin' Sticks" Smell Test: Reliability, Validity, and Normative Data | Ribeiro, João Carlos ; Simões, João ; Silva, Filipe; Silva, Eduardo ; Hummel, Cornelia; Hummel, Thomas; Paiva, António | article | openAccess |
| 10 | 2011 | CYPBI mutations in portuguese patients with primary congenital glaucoma | Carvalho, Ana Rita Simões | masterThesis | openAccess |
| 11 | Mar-2010 | A dinâmica do tecido ósseo : desenvolvimento, estrutura e função | Simões, Maria Luis Lucas dos Santos Cruz | masterThesis | openAccess |
| 12 | 2014 | O "Disease Mongering" no ensino superior : um estudo em alunos universitários de medicina | Linhares, Maria Inês Reis Carneiro Aroso | masterThesis | openAccess |
| 13 | 2014 | Displasia epimetadiafisária autossómica recessiva associada a surdez neurossensorial grave e displasia dos cones e bastonetes grave de inicio precoce : uma nova síndrome? | Valente, Cátia Celina dos Santos | masterThesis | openAccess |
| 14 | 2011 | Doença de Coats | Carvalho, Ana Luísa Dias de | masterThesis | openAccess |
| 15 | 2010 | Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trials | Silva, Nuno Filipe Aguiar | masterThesis | openAccess |
| 16 | 2011 | Genotype-phenotype correlations in CFEOM syndrome : studies in the portuguese population | Gante, Inês Raquel Cardoso | masterThesis | openAccess |
| 17 | 2010 | Genotyphe-phenotype correlations in BEST1 associated diseases | Ferreira, Cátia Marisa Alves | masterThesis | openAccess |
| 18 | 13-Feb-2013 | Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities | Violante, Inês R. ; Ribeiro, Maria J. ; Silva, Eduardo D. ; Castelo-Branco, Miguel | article | openAccess |
| 19 | 17-Mar-2016 | A new and integrative multisensory approach to Usher Syndrome: from genotypes towards an improved characterization of phenotypes | Ribeiro, João Carlos Gomes Silva | doctoralThesis | embargoedAccess |
| 20 | Mar-2012 | Phenotypical and molecular characterization of portuguese leber congenital amaurosis patients | Proença, Ana Rita Pinto Barreiros | masterThesis | openAccess |
| 21 | 2015 | Phenotypical and molecular characterization of portuguese usher syndrome patients | Nunes, Jóni Luís Soares | masterThesis | openAccess |
| 22 | Mar-2011 | Querotopatia em doentes com mieloma múltiplo | Paiva, Ana Raquel de Freitas Rodrigues | masterThesis | openAccess |
| 23 | 2010 | Síndrome de blefarofimose-ptose-epicantus inversus | Pereira, Daniel Alexandre da Conceição | masterThesis | openAccess |
| 24 | 2014 | Spastic paraplegia with juvenile onset optic neuropathy| | Pacheco, Mariana Teixeira Pinto Ferreira | masterThesis | openAccess |