Collection's Items (Sorted by Submit Date in Descending order): 1 to 15 of 15
| Issue Date | Title | Author(s) | Type | Access Type |
| 2017 | MEGDEL Syndrome: Expanding the Phenotype and New Mutations | Sequeira, S; Rodrigues, M; Jacinto, S; Wevers, RA; Wortmann, SB | article |  |
| Dec-2017 | Progressive Deafness-Dystonia due to SERAC1 Mutations: A Study of 67 cases | Maas, RR; Iwanicka-Pronicka, K; Kalkan Ucar, S; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Barić, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chung, WK; Colombo, R; Darin, N; Freisinger, P; Garcia Silva, MT; Grunewald, S; Haack, TB; van Hasselt, PM; Hikmat, O; Hörster, F; Isohanni, P; Ramzan, K; Kovacs-Nagy, R; Krumina, Z; Martin-Hernandez, E; Mayr, JA; McClean, P; De Meirleir, L; Naess, K; Ngu, LH; Pajdowska, M; Rahman, S; Riordan, G; Riley, L; Roeben, B; Rutsch, F; Santer, R; Schiff, M; Seders, M; Sequeira, S; Sperl, W; Staufner, C; Synofzik, M; Taylor, RW; Trubicka, J; Tsiakas, K; Unal, O; Wassmer, E; Wedatilake, Y; Wolff, T; Prokisch, H; Morava, E; Pronicka, E; Wevers, RA; de Brouwer, AP; Wortmann, SB | article | |
| Oct-2018 | AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyria | Carmona, S; Marecos, C; Amorim, M; Ferreira, AC; Conceição, C; Brás, J; Duarte, ST; Guerreiro, R | article | |
| Jan-2018 | Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis | Pol, A; Renkema, GH; Tangerman, A; Winkel, EG; Engelke, UF; de Brouwer, AM; Lloyd, KC; Araiza, RS; van den Heuvel, L; Omran, H; Olbrich, H; Oude Elberink, M; Gilissen, C; Rodenburg, R; Sass, JO; Schwab, KO; Schäfer, H; Venselaar, H; Sequeira, JS; Op den Camp, HM; Wevers, RA | article | |
| May-2018 | Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as Hemolytic Uremic Syndrome | Navarro, D; Azevedo, A; Sequeira, S; Ferreira, AC; Carvalho, F; Fidalgo, T; Vilarinho, L; Santos, MC; Calado, J; Nolasco, F | article | |
| Jun-2017 | Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric Manifestations | Duarte, M; Afonso, J; Moreira, A; Antunes, D; Ferreira, C; Correia, H; Marques, M; Sequeira, S | article | |
| Oct-2016 | Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies | Reis, L M; Tyler, R C; Weh, E; Hendee, K E; Schilter, K F; Phillips, J A; Sequeira, S; Schinzel, A; Semina, E V | article | |
| 2016 | Petersen's Hernia after Mini (One Anastomosis) Gastric Bypass | Kular, KS; Prasad, A; Ramana, B; Baig, S; Mahir Ozmen, M; Valeti, M; Ribeiro, R; De Luca, M; Apers, J; Mahawar, KK | other | |
| 12-Feb-2017 | Hyperprolinemia as a Clue in the Diagnosis of a Patient with Psychiatric Manifestations | Duarte, M; Afonso, J; Moreira, A; Antunes, D; Ferreira, C; Correia, H; Marques, M; Sequeira, S | article | |
| 2015 | Apresentação Clínica da Intolerância Hereditária à Frutose Prévia à Diversificação Alimentar. O Papel dos Excipientes | Dias, F; Tapadinhas, F; Ferreira, AC; Sequeira, S | article | |
| 2000 | Hiperglicinémia Não Cetótica: A Propósito de Dois Casos Tratados com Dextrometorfano e Benzoato de Sódio | Pereira-da-Silva, L; Carvalho, A; Videira-Amaral, J; Sequeira, S; Cabral, P; Gonçalves, H; Serrano, A; Galha, H; Cabral, A | article | |
| 2012 | A Síndrome de Smith-Lemli-Opitz: Características Fenotípicas e Genotípicas dos Doentes Portugueses | Cardoso, 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, E | article | |
| 2014 | Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation | Rocha, S; Ferreira, AC; Dias, AI; Vieira, JP; Sequeira, S | article | |
| 2009 | Consenso para o Tratamento Nutricional das Doenças do Ciclo da Ureia | Rocha, JC; Sequeira, S; Cabral, A; Ferreira Almeida, M | article | |
| 2004 | O Que Pensa o Especialista: Erros Inatos do Metabolismo - Uma Subespecialidade? | Sequeira, S | article | |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 15 of 15
