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Clinical and genetic studies of Birt-Hogg-Dubé syndromeKhoo, S K ; Giraud, S ; Kahnoski, K ; Chen, J ; Motorna, O ; Nickolov, R ; Binet, O ; Lambert, D ; Friedel, J ; Lévy, R ; Ferlicot, S ; Wolkenstein, P ; Hammel, P ; Bergerheim, U ; Hedblad, M-A ; Bradley, M ; Teh, B T ; Nordenskjöld, M ; Richard, SJournal of medical genetics, 2002-12, Vol.39 (12), p.906-912 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Comprehensive genotype–phenotype analysis in 230 patients with tetralogy of FallotRauch, Ralf ; Hofbeck, Michael ; Zweier, Christiane ; Koch, Andreas ; Zink, Stefan ; Trautmann, Udo ; Hoyer, Juliane ; Kaulitz, Renate ; Singer, Helmut ; Rauch, AnitaJournal of medical genetics, 2010-05, Vol.47 (5), p.321-331 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognitionVawter, Marquis P. ; Harvey, Philip D. ; DeLisi, Lynn E.American journal of medical genetics. Part B, Neuropsychiatric genetics, 2007-09, Vol.144B (6), p.728-734 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Genetic polymorphism of N-acetyltransferase 2 in the susceptibility to laryngeal squamous cell carcinomaÜnal, Murat ; Tamer, Lülüfer ; Akbaş, Yücel ; Pata, Yavuz Selim ; Vayisoǧlu, Yusuf ; Deǧirmenci, Ulaş ; Çamdeviren, HandanHead & neck, 2005-12, Vol.27 (12), p.1056-1060 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Implications of a first trimester Down syndrome screening program on timing of malformation detectionJAKOBSEN, TANJA ROIEN ; SØGAARD, KIRSTEN ; TABOR, ANNActa obstetricia et gynecologica Scandinavica, 2011-07, Vol.90 (7), p.728-736 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Induced Oscillations in the Alpha Band: Functional MeaningPfurtscheller, G.Epilepsia (Copenhagen), 2003-01, Vol.44 (s12), p.2-8 [Periódico revisado por pares]350 Main Street , Malden , MA 02148 , USA: Blackwell Science IncTexto completo disponível |
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Material Type: Artigo
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Inoculation of Treixadura musts with autochthonous Saccharomyces cerevisiae strains: Fermentative performance and influence on the wine characteristicsBlanco, Pilar ; Mirás-Avalos, José Manuel ; Suárez, Vanessa ; Orriols, IgnacioFood science and technology international, 2013-04, Vol.19 (2), p.177-186 [Periódico revisado por pares]London, England: SAGE PublicationsTexto completo disponível |
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Material Type: Artigo
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Intracranial electrophysiological investigation of the human brain in patients with epilepsy: contributions to basic and clinical researchWilson, Charles L.Experimental neurology, 2004-06, Vol.187 (2), p.240-245 [Periódico revisado por pares]Amsterdam: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Low-sodium DASH reduces oxidative stress and improves vascular function in salt-sensitive humansAL-SOLAIMAN, Y ; JESRI, A ; ZHAO, Y ; MORROW, J. D ; EGAN, B. MJournal of human hypertension, 2009-12, Vol.23 (12), p.826-835 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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New approaches to the Klinefelter syndromeNieschlag, Eberhard ; Werler, Steffi ; Wistuba, Joachim ; Zitzmann, MichaelAnnales d'endocrinologie, 2014-05, Vol.75 (2), p.88-97 [Periódico revisado por pares]Paris: Elsevier Masson SASTexto completo disponível |