| Consequences of primer binding-sites polymorphisms on genotyping practice EM Martins, L Vilarinho, S Esteves, M Lopes-Marques, A Amorim, ... Open Journal of Genetics 1 (2), 15, 2011 | 10 | 2011 |
| RFT1-CDG: absence of epilepsy and deafness in two patients with novel pathogenic variants D Quelhas, J Jaeken, A Fortuna, L Azevedo, A Bandeira, G Matthijs, ... JIMD Reports, Volume 43, 111-116, 2019 | 8 | 2019 |
| Assessing the effects of PMM2 variants on protein stability D Quelhas, J Carneiro, M Lopes-Marques, J Jaeken, E Martins, JF Rocha, ... Molecular Genetics and Metabolism 134 (4), 344-352, 2021 | 3 | 2021 |
| Exuberant myopathic phenotype in a DPAGT1-CDG patient D Quelhas, M Santos, J Jaeken, G Matthijs, L Lacerda, E Martins Journal of Inherited Metabolic Disease 139, 2016 | 2 | 2016 |
| Expanding phenotype variability in RFT1-CDG: absence of deafness in two patients with novel mutations A Bandeira, AM Fortuna, D Quehhas, J Jaeken, G Matthijs, E Martins Journal of Inherited Metabolic Disease 139, 2016 | | 2016 |
| Citrin deficiency: Prolonged neonatal jaundice and failure to thrive AP Fernandes, C Nogueira, E Martins, S Soares, M Almeida, D Quelhas, ... JOURNAL OF INHERITED METABOLIC DISEASE 31, 90-90, 2008 | | 2008 |
| GP 13.02 Myopathy with autophagic vacuoles in a patient with CDG type I M Santos, E Martins, D Quelhas, A Guimarães Neuromuscular Disorders 17 (9), 849, 2007 | | 2007 |
| CDG type I and myopathy with autophagic vacuoles-A case report C Cardoso, M Santos, E Martins, D Quelhas, L Vilarinho, A Guimaraes JOURNAL OF INHERITED METABOLIC DISEASE 30, 67-67, 2007 | | 2007 |
