Issue Date | Title | Author(s) | Type | Access |
25-Oct-2013 | Caracterização do perfil genómico do carcinoma pulmonar | Portovedo, Sérgio Filipe Jesus | masterThesis | openAccess |
Sep-2013 | Caraterização do perfil genómico do carcinoma pulmonar | Portovedo, Sérgio Filipe de Jesus | masterThesis | openAccess |
Mar-2023 | Common and rare genetic risk variants in age-related macular degeneration and genetic risk score in the Coimbra eye study | Farinha, Cláudia ; Barreto, Patrícia ; Coimbra, Rita ; Cachulo, Maria da Luz ; Melo, Joana Barbosa ; Cunha-Vaz, José ; Lechanteur, Yara; Hoyng, Carel B.; Silva, Rufino | article | openAccess |
2015 | Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients | Carreira, Isabel Marques ; Ferreira, Susana Isabel ; Matoso, Eunice ; Pires, Luís Miguel ; Ferrão, José ; Jardim, Ana ; Mascarenhas, Alexandra ; Pinto, Marta ; Lavoura, Nuno ; Pais, Claudia ; Paiva, Patrícia ; Simões, Lúcia ; Caramelo, Francisco ; Ramos, Lina ; Venâncio, Margarida ; Ramos, Fabiana; Beleza, Ana; Sá, Joaquim ; Saraiva, Jorge ; Melo, Joana Barbosa de | article | openAccess |
2-May-2012 | Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region | Ferreira, Susana Isabel ; Matoso, Eunice ; Venâncio, Margarida ; Saraiva, Jorge ; Melo, Joana B. ; Carreira, Isabel Marques | article | openAccess |
2015 | Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene | Melo, Joana B. ; Estevinho, Alexandra ; Saraiva, Jorge; Ramos, Lina ; Carreira, Isabel M. | article | openAccess |
2010 | Cytogenetic characterization of small supernumerary marker chromosomes : towards a genotype-phenotype correlation | Melo, Maria Joana Lima Barbosa de | doctoralThesis | openAccess |
23-Sep-2019 | Cytogenetics and Cytogenomics Evaluation in Cancer | Ribeiro, Ilda Patrícia ; Melo, Joana Barbosa ; Carreira, Isabel Marques | article | openAccess |
15-Sep-2017 | Cytogenomic characterization and DNA methylation patterns of laryngeal cancer | Ribeiro, Maria Margarida Sá | masterThesis | closedAccess |
22-Jul-2019 | Cytogenomic Evaluation - Importance of CNVs in Head and Neck Cancer | Santos, Ana Lousã Rodrigues Mendes | masterThesis | embargoedAccess |
24-Sep-2018 | Defining Transcriptional Networks Underlying Dendritic Cell Heterogeneity Using Direct Cellular Reprogramming | Azenha, Cláudia de Jesus | masterThesis | embargoedAccess |
2014 | Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipo | Barreto, Mariana Carvalho | masterThesis | openAccess |
May-2021 | DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature | Ribeiro, Joana de Jesus ; Pereira, Cristina Duarte ; Robalo, Conceição ; Pereira, Daniela J.; Duro, Diana ; Ramos, Fabiana ; Freire, António ; Melo, Joana B. | article | openAccess |
19-Mar-2015 | Desequilíbrios genómicos nas patologias do desenvolvimento e do comportamento | Matoso, Eunice Maria Ruas de Campos | doctoralThesis | embargoedAccess |
Sep-2015 | Development of a Database for Array Comparative Genomic Hybridization | Santos, André Ferreira | masterThesis | openAccess |
2016 | Early detection and personalized treatment in oral cancer: the impact of omics approaches | Ribeiro, Ilda Patrícia ; Barroso, Leonor ; Marques, Francisco ; Melo, Joana Barbosa ; Carreira, Isabel Marques | article | openAccess |
22-Jun-2016 | Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment | Onofre, Isabel ; Mendonça, Nuno ; Lopes, Sara ; Nobre, Rui J. ; Melo, Joana Barbosa ; Carreira, Isabel Marques ; Januário, Cristina ; Gonçalves, António Freire ; Almeida, Luís Pereira de | article | openAccess |
May-2018 | Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alteration | Pars, Selin; Cristo, Fernando; Inácio, José M.; Rosas, Graça; Carreira, Isabel Marques ; Melo, Joana Barbosa ; Mendes, Patrícia; Martins, Duarte Saraiva; Almeida, Luís Pereira de ; Maio, José; Anjos, Rui ; Belo, José A. | article | openAccess |
2017 | Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumor | Ribeiro, Ilda Patrícia ; Marques, Francisco ; Barroso, Leonor ; Miguéis, Jorge ; Caramelo, Francisco ; Santos, André ; Julião, Maria J.; Melo, Joana B. ; Carreira, Isabel M. | article | openAccess |
2018 | Genomic and epigenetic signatures associated with survival rate in oral squamous cell carcinoma patients | Ribeiro, Ilda Patrícia ; Caramelo, Francisco ; Esteves, Luísa ; Oliveira, Camila ; Marques, Francisco ; Barroso, Leonor ; Melo, Joana Barbosa ; Carreira, Isabel Marques | article | openAccess |