Collection's Items (Sorted by Submit Date in Descending order): 21 to 40 of 142
| Issue Date | Title | Author(s) | Type | Access Type |
| 27-May-2017 | Alpha-thalassemia due to novel deletions and complex rearrangements in the subtelomeric region of chromosome 16p | Ferrão, José; Silva, Marisa; Gonçalves, Lúcia; Gomes, Susana; Loureiro, Pedro; Coelho, Andreia; Miranda, Armandina; Seuanes, Filomena; Batalha Reis, Ana; Valtonen-André, Camila; Sonesson, Annika; Pina, Francisca; Maia, Raquel; Kjollerstrom, Paula; Monteiro, Estela; F. Lacerda, João; Lavinha, João; Gonçalves, João; Faustino, Paula | conferenceObject |  |
| Apr-2017 | Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de ciudad Bolívar, Venezuela | M. Lima-Martínez, Marcos; Paoli, Mariela; Vázquez-Cárdenas, Alejandra; Magaña-Torres, María Teresa; Guevara, Ornella; Muñoz, María Carolina; Medeiros, Ana; Bourbon, Mafalda | conferenceObject |  |
| Apr-2017 | Applicability of the low-density lipoprotein cholesterol gene score in a south European population | Mariano, C.; Futema, M.; Humphries, S.E.; Bourbon, M. | conferenceObject |  |
| Apr-2017 | Sitosterolaemia: a case of rare hypercholesterolaemia in FH patient’s cohort | Alves, Ana Catarina; Medeiros, Ana; Padeira, Gonçalo; Ferreira, Ana Cristina; Bourbon, Mafalda | conferenceObject |  |
| Apr-2017 | Systematic review of LDLR mutations associated to Familial hypercholesterolaemia evidence of functional studies and application of ACMG guidelines for FH diagnosis | Chora, J.R.; Alves, A.C.; Medeiros, A.M.; Bourbon, M. | conferenceObject |  |
| May-2017 | ASD prevalence study across Europe: developing a school-based screening approach in the ASDEU project | García Primo, P.; Schendel, D.; Partner, E.; Rasga, C.; Café, C.; Rogé, B.; Arnaud, C.; Saemundsen, E.; Muratori, F.; Narzisi, A.; Boilson, A.; Oliveira, G.; Fuentes, J.; Poustka, L.; Scattonni, M.L.; Gissler, M.; Sweeny, M.R.; Budisteanu, M.; Kawa, R.; Canal-Bedia, R.; Stefanov, R.; Van Bakel, M.E.; Vicente, A.M.; Posada, M. | conferenceObject |  |
| May-2017 | CNVs targeting genes that regulate exposure to toxicants in Autism Spectrum Disorder (ASD): a role for gene-environment interactions | Santos, J.X.; Rasga, C.; Asif, M.; Marques, A.R.; Vicente, A.M. | conferenceObject |  |
| Mar-2017 | Complex phenotype of hypercholesterolaemia in a family with both ABCG8 and APOB mutations | Padeira, G.; Gomes, I.; Correia, C.; Valongo, C.; Alves, A.C.; Medeiros, A.; Bourbon, M.; Ferreira, A.C. | conferenceObject |  |
| Oct-2016 | Schistosoma mansoni infection impairs reproduction in mice | Botelho, M.; Lopes, G.; Gartner, F.; Alves, H.; Richter, J. | conferenceObject |  |
| May-2016 | The need to create awareness towards Cholesterol | Frutuoso, J.; Bourbon, M. | conferenceObject |  |
| May-2016 | Cholesterol Levels and Glomerular Filtration Rate – is there any association | Frutuoso, J.; Bourbon, M. | conferenceObject |  |
| Sep-2016 | Benefits of targeting each risk factor for cardiovascular death | Frutuoso, J.; Portugal, G.; Oliveira, J .; Bourbon, M. | conferenceObject |  |
| Sep-2016 | Low birth weight and cardiovascular risk in a Portuguese sample | Frutuoso, J.; Bourbon, M. | conferenceObject |  |
| Sep-2016 | Education & health: the gap between opportunities | Frutuoso, J.; Silva, P.; Bourbon, M. | conferenceObject |  |
| Sep-2016 | Semiology versus laboratory approaches: comparison between interarm blood preassure differences and APOB/APOA ratio | Frutuoso, J.; Silva, P.; Oliveira, J.; Bourbon, M. | conferenceObject |  |
| May-2016 | Transforming Growth Factor-b1 polymorphism is not associated with chronic graft disease: evidence from a meta-analysis | Lima, Bruno A.; Alves, Helena | conferenceObject |  |
| Apr-2016 | Why badly treat what you can well prevent? | Alves, M. Helena; Langford Santos, Helena; Lima, Bruno | conferenceObject |  |
| Apr-2016 | Seeking transparency on allocation of kidneys from deceased donors | Lima, Bruno; Mendes, Miguel; Alves, Helena | conferenceObject |  |
| Apr-2016 | Tissue and cell's trafficking: a byproduct of transplant activity's trash. The future is now. A Public Health problem | Alves, Maria Helena; Langford Santos, Helena | conferenceObject |  |
| May-2016 | Increased frequency of the autism broader phenotype in mothers transmitting etiological CNVs to sons affected by Autism Spectrum Disorder (ASD) | Asif, M.; Conceição, I.C.; Kwiatkowska, K.; Rasga, C.; Café, Cátia; Sousa, L.; Oliveira, G.; Couto, M.F.; Vicente, A.M. | conferenceObject |  |
Collection's Items (Sorted by Submit Date in Descending order): 21 to 40 of 142