1. Repositório Científico do Instituto Nacional de Saúde

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Results 1-10 of 30 (Search time: 0.042 seconds).
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Issue DateTitleAuthor(s)TypeAccess Type
8-Dec-2009Pharmacogenetics of risperidone therapy in autism: association analysis of eight candidate genes with drug efficacy and adverse drug reactionsCorreia, C.T.; Almeida, J.P.; Santos, P.E.; Sequeira, A.F.; Marques, C.E.; Miguel, T.S.; Abreu, R.L.; Oliveira, G.G.; Vicente, A.M.articlerestrictedAccess
9-Jan-2008A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopiaGilling, M.; Lauritsen, M.B.; Møller, M.; Henriksen, K.F.; Vicente, A.M.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P.S.; Mors, O.; Rosenberg, T.; Brøndum-Nielsen, K.; Cotterill, R.M.; Lundsteen, C.; Ropers, H.H.; Ullmann, R.; Bache, I.; Tümer, Z.; Tommerup, N.articleopenAccess
May-2009Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutationsBourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.articleopenAccess
16-Jun-2002Glucose-6-phosphate dehydrogenase deficiency in Portugal: biochemical and mutational profiles, heterogeneity, and haplotype associationRodrigues, M.O.; Freire, A.P.; Martins, G.; Pereira, J.; Martins, M.C.; Monteiro, C.articleopenAccess
5-Dec-2009Association of the alpha4 integrin subunit gene (ITGA4) with autismCorreia, C.; Coutinho, A.M.; Almeida, J.; Lontro, R.; Lobo, C.; Miguel, T.S.; Martins, M.; Gallagher, L.; Conroy, J.; Gill, M.; Oliveira, G.; Vicente, A.M.articlerestrictedAccess
Feb-2008Ceruloplasmin expression by human peripheral blood lymphocytes: a new link between immunity and iron metabolismBanha, J.; Marques, L.; Oliveira, R.; Martins, M. de F.; Paixão, E.; Pereira, D.; Malhó, R.; Penque, D.; Costa, L.articlerestrictedAccess
29-Mar-2004Novel point mutation in exon 12 of the glucose-6- phosphate dehydrogenase gene: G6PD FLORESRodrigues, M.O.; Pereira, J.D.; Gaspar, G.; Olim, G.; Martins, M.C.; Monteiro, C.articlerestrictedAccess
6-Nov-2006Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary resultsBourbon, M.; Rato, Q.; Investigadores do Estudo Português de Hipercolesterolemia FamiliararticleopenAccess
5-Jun-2007MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patientsCoutinho, A.M.; Oliveira, G.; Katz, C.; Feng, J.; Yan, J.; Yang, C.; Marques, C.; Ataíde, A.; Miguel, T.S.; Borges, L.; Almeida, J.; Correia, C.; Currais, A.; Bento, C.; Mota-Vieira, L.; Temudo, T.; Santos, M.; Maciel, P.; Sommer, S.S.; Vicente, A.M.articleopenAccess
23-Feb-2008Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the youngEllard, S.; Bellanné-Chantelot, C.; Hattersley, A.T.; European Molecular Genetics Quality Network (EMQN) MODY grouparticleopenAccess

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