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Santos syndrome is caused by mutation in the WNT7A geneAlves, Leandro U ; Santos, Silvana ; Musso, Camila M ; Ezquina, Suzana Am ; Opitz, John M ; Kok, Fernando ; Otto, Paulo A ; Mingroni-Netto, Regina CJournal of human genetics, 2017-12, Vol.62 (12), p.1073-1078 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Santos syndrome is caused by mutation in the WNT7A geneLeandro U. Alves Silvana Santos; Camila M Musso; Suzana A. M Ezquina; John M Opitz; Fernando Kok; Paulo A Otto; Regina Celia Mingroni NettoJournal of human genetics v. 62, n. 12, p. 1073-1078, 2017New York 2017Acesso online. A biblioteca também possui exemplares impressos. |
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Material Type: Artigo
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Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia ASantacroce, R ; Acquila, M ; Belvini, D ; Castaldo, G ; Garagiola, I ; Giacomelli, S H ; Lombardi, A M ; Minuti, B ; Riccardi, F ; Salviato, R ; Tagliabue, L ; Grandone, E ; Margaglione, MJournal of human genetics, 2008-03, Vol.53 (3), p.275-284 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Lack of association of fragile histidine triad ( ) polymorphisms with lung cancer in the Korean populationJung, Hae-Yun ; Sung, Jae Sook ; Whang, Young Mi ; Shin, Hyoung Doo ; Park, Byung Lae ; Kim, Jun Suk ; Shin, Sang Won ; Seo, Hee Yun ; Sung, Hwa Jung ; Choi, In Keun ; Oh, Sang Cheul ; Seo, Jae Hong ; Kim, Yeul HongJournal of human genetics, 2007-08, Vol.52 (8), p.668-674 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |