Issue Date | Title | Author(s) | Type | Access |
27-Feb-2021 | Liquid Biopsies: Applications for Cancer Diagnosis and Monitoring | Martins, Ivana ; Ribeiro, Ilda Patrícia ; Jorge, Joana ; Gonçalves, Ana Cristina ; Sarmento-Ribeiro, Ana Bela ; Melo, Joana Barbosa ; Carreira, Isabel Marques | article | openAccess |
1-Aug-2008 | Metabolite Profiling of Human Amniotic Fluid by Hyphenated Nuclear Magnetic Resonance Spectroscopy | Graça, Gonçalo ; Duarte, Iola F. ; Goodfellow, Brian J. ; Carreira, Isabel M. ; Couceiro, Ana Bela ; Domingues, Maria do Rosário ; Spraul, Manfred ; Tseng, Li-Hong ; Gil, Ana M. | article | openAccess |
3-Sep-2018 | Metabolomics, Genetics and Environment: a Novel Integrative Approach to Age-related Macular Degeneration | Laíns, Inês Maria de Carvalho | doctoralThesis | openAccess |
Jan-2010 | Microdeletion 22QII.2 : a reason to feel blue? | Gameiro, Pedro Centeio Ferraz | masterThesis | openAccess |
2017 | MLPA analysis in a cohort of patients with autism | Peixoto, Sara ; Melo, Joana B. ; Ferrão, José ; Pires, Luís M. ; Lavoura, Nuno ; Pinto, Marta ; Oliveira, Guiomar ; Carreira, Isabel M. | article | openAccess |
2009 | Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 → qter) detected in an autistic boy | Carreira, Isabel M. ; Melo, Joana B. ; Rodrigues, Carlos F. D. ; Backx, Liesbeth; Vermeesch, Joris; Weise, Anja; Kosyakova, Nadezda; Oliveira, Guiomar ; Matoso, Eunice | article | openAccess |
Feb-2020 | Molecular cytogenetic pilot study on pleomorphic adenomas of salivary glands | Thielker, Jovanna; Weise, Anja; Othman, Moneeb A. K. ; Carreira, Isabel M. ; Melo, Joana B. ; Von Eggeling, Ferdinand; Guntinas-Lichius, Orlando; Ziegler, Monika; Liehr, Thomas | article | openAccess |
2020 | A new childhood ALL case with an extremely complex karyotype and acute spontaneous tumor lysis syndrome | Wafa, Abdulsamad; Jarjour, Rami A; Alolabi, Doaa; Liehr, Thomas ; Hamdan, Othman; Melo, Joana B. ; Carreira, Isabel M. ; Othman, Moneeb A. K. ; Al-Achkar, Walid | article | openAccess |
2014 | A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute Lymphoblastic Leukemia | Othman, Moneeb A. K. ; Rincic, Martina ; Melo, Joana B. ; Carreira, Isabel M. ; Alhourani, Eyad ; Hunstig, Friederike ; Glaser, Anita ; Liehr, Thomas | article | openAccess |
2014 | Otimização da técnica de array CGH em diagnóstico pré-natal | Gonçalves, João Carlos Martins | masterThesis | openAccess |
2003 | Partial Tetrasomy of Chromosome 3q and Mosaicism in a Child with Autism | Oliveira, Guiomar ; Matoso, Eunice ; Vicente, Astrid ; Ribeiro, Patricia ; Marques, Carla ; Ataíde, Assunção ; Miguel, Teresa ; Saraiva, Jorge ; Carreira, Isabel | article | openAccess |
18-Jul-2017 | Perfil genético em colangiocarcinoma. | Tavares, Inês Moura | masterThesis | closedAccess |
Mar-2013 | Perfil genómico e caracterização clínica de crianças com sindrome X-frágil | Vitorino, Ana Sofia Pereira Costa Silva | masterThesis | openAccess |
Oct-2014 | Prenatal diagnosis : state of the art | Costa, Claúdia Sofia Fernandes da | masterThesis | openAccess |
31-Aug-2021 | Prevalence of cytogenetic abnormalities and FMR1 gene premutation in a Portuguese population with premature ovarian insufficiency | Neves, Ana Raquel; Pais, Ana Sofia ; Ferreira, Susana Isabel ; Ramos, Vera; Carvalho, Maria João ; Estevinho, Alexandra ; Matoso, Eunice; Geraldes, Fernanda; Carreira, Isabel Marques ; Águas, Fernanda | article | openAccess |
17-Apr-2024 | Principles in the Management of Glioblastoma | Roda, Domingos; Veiga, Pedro; Melo, Joana Barbosa ; Carreira, Isabel Marques ; Ribeiro, Ilda Patrícia | article | openAccess |
10-Sep-2020 | Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profiles | Esteves, Luísa ; Caramelo, Francisco ; Ribeiro, Ilda Patrícia ; Carreira, Isabel M. ; Melo, Joana Barbosa de | article | openAccess |
2011 | Relação genótipo-fenótipo em indivíduos com autismo | Peixoto, Sara Cecília Carneiro | masterThesis | openAccess |
Jul-2013 | Relatório de estágio : mestrado em análises clínicas | Silva, Liliana Sofia Oliveira | masterThesis | openAccess |
2014 | Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the Sao Miguel Island, Azores, revealed the second patient with a triplication | Pires, Renato ; Pires, Luís M. ; Vaz, Sara O. ; Maciel, Paula ; Anjos, Rui ; Moniz, Raquel ; Branco, Claudia C. ; Cabral, Rita ; Carreira, Isabel M. ; Mota-Vieira, Luisa | article | openAccess |