Browsing by Author Melo, Joana Barbosa


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Issue DateTitleAuthor(s)TypeAccess
25-Oct-2013Caracterização do perfil genómico do carcinoma pulmonarPortovedo, Sérgio Filipe JesusmasterThesisopenAccess
Sep-2013Caraterização do perfil genómico do carcinoma pulmonarPortovedo, Sérgio Filipe de JesusmasterThesisopenAccess
Mar-2023Common and rare genetic risk variants in age-related macular degeneration and genetic risk score in the Coimbra eye studyFarinha, Cláudia ; Barreto, Patrícia ; Coimbra, Rita ; Cachulo, Maria da Luz ; Melo, Joana Barbosa ; Cunha-Vaz, José ; Lechanteur, Yara; Hoyng, Carel B.; Silva, Rufino articleopenAccess
2015Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsCarreira, 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 articleopenAccess
2-May-2012Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome regionFerreira, Susana Isabel ; Matoso, Eunice ; Venâncio, Margarida ; Saraiva, Jorge ; Melo, Joana B. ; Carreira, Isabel Marques articleopenAccess
2015Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 geneMelo, Joana B. ; Estevinho, Alexandra ; Saraiva, Jorge; Ramos, Lina ; Carreira, Isabel M. articleopenAccess
2010Cytogenetic characterization of small supernumerary marker chromosomes : towards a genotype-phenotype correlationMelo, Maria Joana Lima Barbosa de doctoralThesisopenAccess
23-Sep-2019Cytogenetics and Cytogenomics Evaluation in CancerRibeiro, Ilda Patrícia ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess
15-Sep-2017Cytogenomic characterization and DNA methylation patterns of laryngeal cancerRibeiro, Maria Margarida Sá masterThesisclosedAccess
22-Jul-2019Cytogenomic Evaluation - Importance of CNVs in Head and Neck CancerSantos, Ana Lousã Rodrigues MendesmasterThesisembargoedAccess
24-Sep-2018Defining Transcriptional Networks Underlying Dendritic Cell Heterogeneity Using Direct Cellular ReprogrammingAzenha, Cláudia de Jesus masterThesisembargoedAccess
2014Deleção na região do síndrome de Wolf-Hirschhorn: do genótipo ao fenótipoBarreto, Mariana Carvalho masterThesisopenAccess
May-2021DEPDC5 variant in focal cortical dysplasia: a case report and review of the literatureRibeiro, Joana de Jesus ; Pereira, Cristina Duarte ; Robalo, Conceição ; Pereira, Daniela J.; Duro, Diana ; Ramos, Fabiana ; Freire, António ; Melo, Joana B. articleopenAccess
19-Mar-2015Desequilíbrios genómicos nas patologias do desenvolvimento e do comportamentoMatoso, Eunice Maria Ruas de Campos doctoralThesisembargoedAccess
Sep-2015Development of a Database for Array Comparative Genomic HybridizationSantos, André Ferreira masterThesisopenAccess
2016Early detection and personalized treatment in oral cancer: the impact of omics approachesRibeiro, Ilda Patrícia ; Barroso, Leonor ; Marques, Francisco ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess
22-Jun-2016Fibroblasts of Machado Joseph Disease patients reveal autophagy impairmentOnofre, Isabel ; Mendonça, Nuno ; Lopes, Sara ; Nobre, Rui J. ; Melo, Joana Barbosa ; Carreira, Isabel Marques ; Januário, Cristina ; Gonçalves, António Freire ; Almeida, Luís Pereira de articleopenAccess
May-2018Generation and characterization of a human iPS cell line from a patient-related control to study disease mechanisms associated with DAND5 p.R152H alterationPars, 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.articleopenAccess
2017Genetic and epigenetic characterization of the tumors in a patient with a tongue primary tumor, a recurrence and a pharyngoesophageal second primary tumorRibeiro, Ilda Patrícia ; Marques, Francisco ; Barroso, Leonor ; Miguéis, Jorge ; Caramelo, Francisco ; Santos, André ; Julião, Maria J.; Melo, Joana B. ; Carreira, Isabel M. articleopenAccess
2018Genomic and epigenetic signatures associated with survival rate in oral squamous cell carcinoma patientsRibeiro, Ilda Patrícia ; Caramelo, Francisco ; Esteves, Luísa ; Oliveira, Camila ; Marques, Francisco ; Barroso, Leonor ; Melo, Joana Barbosa ; Carreira, Isabel Marques articleopenAccess