Issue Date | Title | Author(s) | Type | Access |
2012 | Beta thalassemia major due to acquired uniparental disomy in a previously healthy adolescent | Bento, C. ; Maia, T. M. ; Milosevic, J. D. ; Carreira, I. M. ; Kralovics, R. ; Ribeiro, M. L. | article | openAccess |
May-2016 | BIRC3 alterations in chronic and B-cell acute lymphocytic leukemia patients | Alhourani, Eyad ; Othman, Moneeb A. K. ; Melo, Joana Barbosa ; Carreira, Isabel M. ; Grygalewicz, Beata; Vujić, Dragana; Zecević, Zeljko; Joksić, Gordana; Glaser, Anita ; Pohle, Beate; Schlie, Cordula; Hauke, Sven; Liehr, Thomas | article | openAccess |
Sep-2016 | Cachexia in patients with head and neck cancer undergoing radiotherapy or concurrent chemoradiotherapy : characterization, molecular mechanisms and relationships | Pedro, Nicole Sónia Neto | masterThesis | embargoedAccess |
2012 | Can Biofluids Metabolic Profiling Help to Improve Healthcare during Pregnancy? | Graça, Gonçalo ; Diaz, Sílvia O.; Pinto, Joana; Barros, António S.; Duarte, Iola F. ; Goodfellow, Brian J. ; Galhano, Eulália; Pita, Cristina; Almeida, Maria do Céu ; Carreira, Isabel M. ; Gil, Ana M. | article | openAccess |
Mar-2012 | Caracterização citogénica e genómica de pacientes com MAC (microftalmia, anoftalmia e coloboma) | Estrela, Filipe João Santos | masterThesis | openAccess |
2013 | Caracterização do perfil genómico do Cancro da Bexiga - Contribuição para o desenvolvimento de uma metodologia de diagnóstico e monitorização molecular | Santos, João Filipe Delgado dos | masterThesis | openAccess |
25-Oct-2013 | Caracterização do perfil genómico do carcinoma pulmonar | Portovedo, Sérgio Filipe Jesus | masterThesis | openAccess |
2015 | Characterization of the genetic and epigenetic profile of tongue squamous cell carcinoma | Lisboa, Sofia Matos | masterThesis | openAccess |
Mar-2013 | Clinical characterization and genetic analysis in women with premature ovarian insuficciency | Machado, Andrea Suzana Teixeira Lopes | masterThesis | 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 |
2016 | Copy number variation analysis in retinal angiomatous proliferation | Tomás, Mariana Santos Vidal | masterThesis | embargoedAccess |
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 |
2014 | Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipo | Barreto, Mariana Carvalho | masterThesis | openAccess |
19-Mar-2015 | Desequilíbrios genómicos nas patologias do desenvolvimento e do comportamento | Matoso, Eunice Maria Ruas de Campos | doctoralThesis | embargoedAccess |
2009 | Disfunção celular face à hipóxia em cardiomiócitos sujeitos a condições de hiperglicémia | Ramalho, Ana Rita Travassos Valdez de Moreira | 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 |