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TITLE: Cytogenetic Approach to Male Infertility Diagnosis: the importance of a karyotype.  Full Text
AUTHORS: Maria Elisa Lopes; Natalia Oliva Teles; Silvia Pires; Fernanda Paula Oliveira; Maria do Ceu Ribeiro; Cristina Candeias; Manuela Mota Freitas; Maria da Luz E Fonseca e Silva;
PUBLISHED: 2015, SOURCE: CHROMOSOME RESEARCH, VOLUME: 23
INDEXED IN: WOS
14
TITLE: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening  Full Text
AUTHORS: Laura Vilarinho; Jorge Sales Marques; Hugo Rocha; Altina Ramos; Lurdes Lopes; Srinivas B Narayan; Michael J Bennett;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 106, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
15
TITLE: Combined liver-kidney transplantation in familial amyloidotic polyneuropathy TTR V30M: nephrological assessment.
AUTHORS: Lobato, L; Beirao, I ; Seca, R; Pessegueiro, H; Rocha, MJ; Queiroz, J; Gomes, M; Henriques, AC; Teixeira, M; Almeida, R;
PUBLISHED: 2011, SOURCE: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis, VOLUME: 18 Suppl 1
INDEXED IN: Scopus
IN MY: ORCID
16
TITLE: Combined liver–kidney transplantation in familial amyloidotic polyneuropathy TTR V30M: Nephrological assessment
AUTHORS: Lobato, L; Beirão, I ; Seca, R; Pessegueiro, H; Rocha, MJ; Queiroz, J; Gomes, M; Henriques, AC; Teixeira, M; Almeida, R;
PUBLISHED: 2011, SOURCE: Amyloid, VOLUME: 18, ISSUE: sup1
INDEXED IN: Scopus
17
TITLE: Report and recommendations from the 1st International Workshop on the Hereditary Renal Amyloidoses, FAP Symposium, London, 2008  Full Text
AUTHORS: Stangou, AJ; Lobato, L; Zeldenrust, S; Portmann, B; Linke, R; Otto, G; Wilczek, H; Suhr, O; Azoulay, D; Grateau, G; Picken, M; O'Grady, J; Ericzon, BG; Heaton, N; Benson, MD;
PUBLISHED: 2010, SOURCE: 12th International Symposium on Amyloidosis from Molecular Mechanisms Toward the Cure of Systemic Amyloidoses in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 17
INDEXED IN: WOS
18
TITLE: Combined liver-kidney transplantation in FAP TTR V30M: nephrological assessement  Full Text
AUTHORS: Lobato, L; Beirao, I ; Seca, R; Pessegueiro, H; Rocha, MJ; Queiroz, J; Gomes, M; Castro Henriques, AC; Teixeira, M; Almeida, R;
PUBLISHED: 2010, SOURCE: 12th International Symposium on Amyloidosis from Molecular Mechanisms Toward the Cure of Systemic Amyloidoses in AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, VOLUME: 17
INDEXED IN: WOS
19
TITLE: Crohn's Disease in a Southern European Country: Montreal Classification and Clinical Activity  Full Text
AUTHORS: Magro, F ; Portela, F; Lago, P; De Deus, JR; Vieira, A ; Peixe, P; Cremers, I; Cotter, J; Cravo, M ; Tavares, L; Reis, J; Goncalves, R; Lopes, H; Caldeira, P; Ministro, P; Carvalho, L; Azevedo, L ; Da Costa Pereira, A ; Nunes, ACR; Valente, AI; Vieira, AI; Duarte, A; Marques, A; Queiroz, A; Ribeiro, B; Duesca, C; Viveiros, CF; Caetano, C; Sequeira, C; Horta, D; Gencsi, E; Monteiro, E; Silva, FG; Marinho, G; Cardoso, H; Vasconcelos, H; Sousa, H; Morna, H; Bastos, I; Medeiros, I; Seves, I; Rosa, I; Baranda, J; Dias, JA; Lopes, JG; Freitas, J; Matos, JDP; Vieira, J; Estevens, J; Ribeiro, JM; Matos, L; Correia, L; Jasmins, L; Lebre, L; Barros, L; Gloria, L; Tavares, L; Marques, M; Cremers, MI; Maldonado, MDR; Correia, M; Goncalves, MDL; Cesar, M; Areia, M ; Ferreira, M; Campos, MJ; Salgado, M; Almeida, N; Andrade, P; Santos, PM; Freire, P; Martins, P; Ferreira, R; Freire, R; Loureiro, R; Sousa, R; Cerqueira, R; Sousa, S; Lima, SC; Alberto, SF; Leite, S; Mendes, S; Barroso, S; Lopes, S; Nobre, S; Costa, TB ; Fernandes, V; ...More
PUBLISHED: 2009, SOURCE: INFLAMMATORY BOWEL DISEASES, VOLUME: 15, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 19
20
TITLE: Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations  Full Text
AUTHORS: Encarnacao, M; Lacerda, L; Costa, R; Prata, MJ ; Coutinho, MF; Ribeiro, H; Lopes, L; Pineda, M; Ignatius, J; Galvez, H; Mustonen, A; Vieira, P; Lima, MR; Alves, S;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 76, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 42
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