Loading... 2 0 20 0 false
 
 
 
Loading... 3 0 20 0 false

Publications
(All)

Refined By:
Type:  masterThesis

Results 1-18 of 18 (Search time: 0.554 seconds).

Issue DateTitleAuthor(s)TypeAccess
12011Autosomal recessive nanophthalmos : MFRP mutation and phenotypical spectrumBreda, João Filipe Barbosa masterThesisopenAccess
217-Jul-2014Characterization of a portuguese LCA family secondary to homozygous RPE65 mutationQuintas, Bruna Filipa Gomes Botelho masterThesisopenAccess
32014Clinical and molecular characterization of infantile neuroaxonal dystrophy patientsSilva, Nuno Miguel Barata Gaião Cunha da masterThesisopenAccess
42011Clinical assessment of rod-cone dystrophy patients carrying rhodopsin mutationsBeato, João Nuno Bicho masterThesisopenAccess
52011CYPBI mutations in portuguese patients with primary congenital glaucomaCarvalho, Ana Rita Simões masterThesisopenAccess
6Mar-2010A dinâmica do tecido ósseo : desenvolvimento, estrutura e funçãoSimões, Maria Luis Lucas dos Santos Cruz masterThesisopenAccess
72014O "Disease Mongering" no ensino superior : um estudo em alunos universitários de medicinaLinhares, Maria Inês Reis Carneiro Aroso masterThesisopenAccess
82014Displasia 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 masterThesisopenAccess
92011Doença de CoatsCarvalho, Ana Luísa Dias de masterThesisopenAccess
102010Gene therapy for Stargardt and other ABCA4-related diseases: lessons from RPE65-LCA trialsSilva, Nuno Filipe Aguiar masterThesisopenAccess
112011Genotype-phenotype correlations in CFEOM syndrome : studies in the portuguese populationGante, Inês Raquel Cardoso masterThesisopenAccess
122010Genotyphe-phenotype correlations in BEST1 associated diseasesFerreira, Cátia Marisa Alves masterThesisopenAccess
13Mar-2012Phenotypical and molecular characterization of portuguese leber congenital amaurosis patientsProença, Ana Rita Pinto Barreiros masterThesisopenAccess
142015Phenotypical and molecular characterization of portuguese usher syndrome patientsNunes, Jóni Luís Soares masterThesisopenAccess
15Mar-2011Querotopatia em doentes com mieloma múltiploPaiva, Ana Raquel de Freitas Rodrigues masterThesisopenAccess
162010Síndrome de blefarofimose-ptose-epicantus inversusPereira, Daniel Alexandre da Conceição masterThesisopenAccess
172014Spastic paraplegia with juvenile onset optic neuropathy|Pacheco, Mariana Teixeira Pinto Ferreira masterThesisopenAccess
1831-May-2017Spectrum of Ophthalmological Manifestations of Early-Onset Cobalamin C DeficiencyBarão, Rafael Correia masterThesisembargoedAccess