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DataTítuloAutor(es)TipoAcesso
20162016 Update of the Portuguese Recommendations for the Use of Biological Therapies in Children and Adolescents with Juvenile Idiopathic ArthritisSantos, MJ; Conde, M; Mourão, AF; Ramos, FO; Cabral, M; Brito, I; Ramos, MP; Marques, RC; Gomes, SM; Guedes, M; Gonçalves, MJ; Estanqueiro, P; Zilhão, C; Rodrigues, M; Henriques, C; Salgado, M; Canhão, H; Fonseca, JE; Gomes, JMarticleopenAccess
Nov-2015Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 FamiliesNabais Sá, MJ; Sampaio, S; Oliveira, A; Alves, S; Moura, CP; Silva, SE; Castro, R; Araújo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M; Carvalho, F; Oliveira, JParticleopenAccess
2013Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Ligation - Syndrome Detected by Multiplex Ligation Dependent Probe Amplification (MLPA)Vijzelaar, R; Waller, S; Errami, A; Donaldson, A; Lourenço, T; Rodrigues, M; McConnell, V; Fincham, G; Snead, M; Richards, AarticleopenAccess
2014Gastroenterite Aguda por Salmonella Não Tifoide em Crianças: Revisão de 10 AnosPignatelli, D; Leal, E; Lito, D; Dâmaso, C; Rodrigues, M; Cunha, FarticleopenAccess
2012A Síndrome de Smith-Lemli-Opitz: Características Fenotípicas e Genotípicas dos Doentes PortuguesesCardoso, ML; Bandeira, A; Lopes, A; Rodrigues, M; Venâncio, M; Sales Marques, J; Janeiro, P; Ferreira, I; Quelhas, D; Sequeira, S; Soares, G; Lourenço, T; Rodrigues, R; Gaspar, A; Nunes, L; Marques, F; Martins, EarticleopenAccess
Abr-2015Urinary Tract Effects of HPSE2 MutationsStuart, H; Roberts, N; Hilton, E; McKenzie, E; Daly, S; Hadfield, K; Rahal, J; Gardiner, N; Tanley, S; Lewis, M; Sites, E; Angle, B; Alves, C; Lourenço, T; Rodrigues, M; Calado, A; Amado, M; Guerreiro, N; Serras, I; Beetz, C; Varga, R; Silay, M; Darlow, J; Dobson, M; Barton, D; Hunziker, M; Puri, P; Feather, S; Goodship, J; Goodship, T; Lambert, H; Cordell, H; Saggar, A; Kinali, M; Lorenz, C; Moeller, K; Schaefer, F; Bayazit, A; Weber, S; Newman, W; Woolf, AarticleopenAccess