| Issue Date | Title | Author(s) | Type | Access Type |
| 2014 | A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis | Jorge, P.; Mota-Freitas, M.; Santos, R.; Silva, M.; Soares, G.; Fortuna, A. | article |  |
| 27-Jun-2014 | Advances in fragile-x testing | Maia, N.; Marques, Isabel; Jorge, P.; Santos, Rosário | conferenceObject | |
| 28-Jun-2013 | Arx-related disorders: several distinct phenotypes, one mutated gene | Sá, M.J.; Soares, G.; Silva, J.; Fortuna, A.; Santos, R.; Marques, I.; Jorge, P. | conferenceObject | |
| 10-May-2018 | Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies | Jorge, P.; Garcia, E.; Gonçalves, A.; Marques, I.; Maia, N.; Rodrigues, B.; Santos, H.; Fonseca, J.; Soares, G.; Correia, C.; Reis-Lima, M.; Cirigliano, V.; Santos, R. | article | |
| 2013 | Development and validation of a multiplex-PCR assay for X-linked intellectual disability | Jorge, P.; Oliveira, B.; Marques, I.; Santos, R. | article | |
| 28-Jun-2013 | A multiplex assay for x‐linked intellectual disability assessment | Jorge, P.; Marques, I.; Oliveira, B.; Santos, R. | conferenceObject | |
| 2013 | Sindrome de X frágil: pessoas, contextos & percursos | Franco, V.; Martins, M.; Jorge, P.; Ferreira, F.; Bertão, A.; Apolónio, A.; Pires, H.; Melo, M.; Albuquerque, C.; Cunha, M.; Carmona, C.; Costa, T.; Reis, S.; Jiménez, S. | book | |
| 25-Feb-2015 | Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach | Marques, I.; Sá, J.; Soares, G.; Mota, M.; Pinheiro, C.; Aguiar, L.; Amado, M.; Soares, C.; Calado, A.; Dias, P.; Sousa, A.; Fortuna, A.; Santos, R.; Howell, K.; Ryan, M.; Leventer, R.; Sachdev, R.; Catford, R.; Friend, K; Mattiske, T.; Shoubridge, C.; Jorge, P. | article | |
