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Material Type: Artigo
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Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulationSuraweera, Amila ; Lim, YiChieh ; Woods, Rick ; Birrell, Geoff W. ; Nasim, Talat ; Becherel, Olivier J. ; Lavin, Martin F.Human molecular genetics, 2009-09, Vol.18 (18), p.3384-3396 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Phenotypic manifestations of MECP2 mutations in classical and atypical rett syndromeSchanen, Carolyn ; Houwink, Elisa J.F. ; Dorrani, Naghmeh ; Lane, Jane ; Everett, Ruth ; Feng, Alice ; Cantor, Rita M. ; Percy, AlanAmerican journal of medical genetics, 2004-04, Vol.126A (2), p.129-140 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Genetic Variation in Vascular Endothelial Growth Factor-A and Lung FunctionSIMPSON, Angela ; CUSTOVIC, Adnan ; KLJAIC BUKVIC, Blazenka ; ABERLE, Neda ; MARINHO, Susana ; BELGRAVE, Danielle ; MORGAN, Wayne J ; MARTINEZ, Fernando D ; TEPPER, Robert ; GRAVES, Penelope ; STERN, Debra A ; JONES, Marcus ; HANKINSON, Jenny ; CURTIN, John A ; JIAKAI WU ; BLEKIC, MarioAmerican journal of respiratory and critical care medicine, 2012-06, Vol.185 (11), p.1197-1204 [Periódico revisado por pares]New York, NY: American Thoracic SocietyTexto completo disponível |
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4 |
Material Type: Artigo
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CSF Bcl-2 and cytochrome C temporal profiles in outcome prediction for adults with severe TBIWagner, Amy K ; Amin, Krutika B ; Niyonkuru, Christian ; Postal, Brett A ; McCullough, Emily H ; Ozawa, Haishin ; Dixon, C Edward ; Bayir, Hulya ; Clark, Robert S ; Kochanek, Patrick M ; Fabio, AnthonyJournal of cerebral blood flow and metabolism, 2011-09, Vol.31 (9), p.1886-1896 [Periódico revisado por pares]London, England: SAGE PublicationsTexto completo disponível |
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5 |
Material Type: Artigo
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PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiencyLemos, Manuel C. ; Gomes, Leonor ; Bastos, Margarida ; Leite, Valeriano ; Limbert, Edward ; Carvalho, Davide ; Bacelar, Conceição ; Monteiro, Mariana ; Fonseca, Fernando ; Agapito, Ana ; Castro, João J. ; Regateiro, Fernando J. ; Carvalheiro, ManuelaClinical endocrinology (Oxford), 2006-10, Vol.65 (4), p.479-485 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |