Data | Título | Autor(es) | Tipo | Acesso |
Nov-2013 | Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients | Santen, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T., et al. | Artigo | Acesso restrito UMinho |
2005 | Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) | Shi, Jinxiu; Shibayama, Akane; Liu, Qiang, et al. | Artigo | Acesso aberto |
Nov-2015 | Fine time scaling of purifying selection on human nonsynonymous mtDNA mutations based on the worldwide population tree and mother-child pairs | Cavadas, Bruno; Soares, Pedro; Camacho, Rui, et al. | Artigo | Acesso restrito UMinho |
Mai-2019 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Parsons, Michael T.; Tudini, Emma; Li, Hongyan, et al. | Artigo | Acesso aberto |