| Data | Título | Autor(es) | Tipo | Acesso |
| 9-Mai-2006 | APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers | Burwick, R. M.; Ramsay, P. P.; Haines, J. L., et al. | Artigo | Acesso restrito UMinho |
| 2019 | Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy | Feichtinger, René G.; Mucha, Bettina E.; Hengel, Holger, et al. | Artigo | Acesso restrito autor |
| Abr-2019 | Exome sequencing identifies germline variants in DIS3 in familial multiple myeloma | Pertesi, Maroulio; Vallée, Maxime; Wei, Xiaomu, et al. | Carta ao editor | Acesso aberto |
| Jun-2007 | MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients | Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile, et al. | Artigo | Acesso restrito UMinho |
| 2017 | Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease | Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel, et al. | Artigo | Acesso restrito autor |
| Out-2010 | Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis | Pinho, Teresa; Silva-Fernandes, Anabela; Bousbaa, Hassan, et al. | Artigo | Acesso aberto |
| Out-2013 | Phenotypic characterization and familial risk in hyperplastic polyposis syndrome | Caetano, Ana Célia; Ferreira, Helena; Soares, João, et al. | Artigo | Acesso restrito UMinho |
| 2009 | TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset | Pinto, Carla; Veiga, Isabel; Pinheiro, Manuela, et al. | Artigo | Acesso restrito UMinho |
