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DataTítuloAutor(es)TipoAcesso
1-Nov-2013Kallmann Syndrome associated with a large deletion of KAL1 geneSilva, Júlia; Ventura, Célia; Kay, Teresa; Gonçalves, J.conferenceObjectrestrictedAccess
Nov-2017KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond conventional cytogeneticsCarvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D.conferenceObjectopenAccess
Out-2017Key Metrological Issues for the estimation of Dietary Intakes of Manganese and Copper from Portuguese Total Diet StudyVentura, Marta; Coelho, Inês; Gueifão, Sandra; Moreira, Tiago; Costa, Helena; Castanheira, IsabelconferenceObjectclosedAccess
23-Out-2016Knowing the epidemic is the best way to define diagnosis and treatment strategies to reach the 90-90-90 goals: the experience of Portugal in using the ECDC HIV modelling toolDiniz, António; Loff, José; Cortes Martins, HelenaconferenceObjectopenAccess
Nov-2012Laboratory validation of the method for determination of overall migration in food packaging plastic materialsVilarinho, Fernanda; Santos, Mariana; Calhau, Maria AntóniaconferenceObjectrestrictedAccess
15-Dez-2011Laboratório de Microbiologia - Visita virtualPena, CláudiaconferenceObjectrestrictedAccess
28-Set-2015O Laboratório de Proteómica do Instituto Ricardo JorgePenque, DeborahconferenceObjectopenAccess
Fev-2012Lack of Cystatin B Protein as a Cause Of Myoclonic EpilepsyAmaral, O.; Duarte, A.; Pinto, E.; Freitas, J.; Chaves, J.conferenceObjectrestrictedAccess
17-Mar-2012Lamina A/C- Um Gene Várias Doençasdos Santos, Tiago; Moreno, Teresa; Conceição, Isabel; Oliveira, Jorge; Evangelista, TeresinhaconferenceObjectopenAccess
Jul-2011Large interstitial del(13)(q13q14.3): the importance of detailed clinical information in cytogenetic studiesOliveira, Fernanda Paula; Oliva Teles, Natália; Ribeiro, Joana; Mota Freitas, Manuela; Margarida, Azevedo; Correia, Hildeberto; Fonseca Silva, Maria da LuzconferenceObjectopenAccess
Jun-2015LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemiaAzevedo, S.; Alves, A.C.; Medeiros, A.M.; Barros, P.; Martín, C.; Bourbon, M.conferenceObjectembargoedAccess
8-Mai-2017LDLR, APOB and PCSK9 variants associated with Familial hypercholesterolaemia application of ACMG guidelines for variant interpretationChora, J.R.; Medeiros, A.M.; Alves, A.C.; Bourbon, M.conferenceObjectembargoedAccess
3-Out-2016Lead, arsenic, cadmium and chromium contents in prioritized foods: results from portuguese total diet pilot studyVentura, Marta; Coelho, Inês; Gueifão, Sandra; Rego, Andreia; Castanheira, IsabelconferenceObjectclosedAccess
14-Out-2011A Legionella e o HomemPizarro, C.; Coelho, C.conferenceObjectopenAccess
27-Set-2013Legionella speciesRodrigues, Raquel; Pizarro, CristinaconferenceObjectopenAccess
21-Mai-2015Legionella: história, causas e prevençãoEsaguy Rodrigues, RaquelconferenceObjectclosedAccess
8-Mai-2017Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in MucopolysaccharidosesCoutinho, Maria Francisca; Santos, Juliana Inês; Alves, SandraconferenceObjectopenAccess
Mar-2017Less is More: an overview on the use of RNAi as a tool to achieve Substrate Reduction in MucopolysaccharidosesCoutinho, Maria Francisca; Santos, Juliana Inês; Alves, SandraconferenceObjectopenAccess
8-Mai-2017Lessons from Colon Cancer: How Signal Transduction Pathways Regulate Alternative Splicing of RAC1bGonçalves, Vânia; Matos, Paulo; Henriques, Andreia; Pereira, Joana; Jordan, PeterconferenceObjectopenAccess
Nov-2012Letalidade intra-hospitalar ajustada por ano, grupo etário e sexo; significado, implicações e robustez da análiseNunes, BaltazarconferenceObjectrestrictedAccess