Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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PIP(2) binding residues of Kir2.1 are common targets of mutations causing Andersen syndromeDonaldson, M.R. ; Jensen, J.L. ; Tristani-Firouzi, M. ; Tawil, R. ; Bendahhou, S. ; Suarez, W.A. ; Cobo, A.M. ; Poza, J.J. ; Behr, E. ; Wagstaff, J. ; Szepetowski, P. ; Pereira, S. ; Mozaffar, T. ; Escolar, D.M. ; Fu, Y.H. ; Ptacek, L.J.Neurology, 2003, Vol.xxx, p.1811-1816 [Periódico revisado por pares]American Academy of NeurologyTexto completo disponível |
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Material Type: Artigo
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Rules for clinical diagnosis in babies with ambiguous genitaliaLow, Y ; Hutson, JMJournal of paediatrics and child health, 2003-08, Vol.39 (6), p.406-413 [Periódico revisado por pares]Oxford, UK: Blackwell Science PtyTexto completo disponível |
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Material Type: Artigo
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22q11.2 deletion syndrome in patients admitted to a cardiac pediatric intensive care unit in BrazilRosa, Rafael F.M. ; Pilla, Carlo B. ; Pereira, Vera L.B. ; Flores, José A.M. ; Golendziner, Eliete ; Koshiyama, Dayane B. ; Hertz, Michele T. ; Ricachinevsky, Cláudia P. ; Roman, Tatiana ; Varella-Garcia, Marileila ; Paskulin, Giorgio A.American journal of medical genetics. Part A, 2008-07, Vol.146A (13), p.1655-1661 [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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The birth of cardiac disease: Mechanisms linking gestational diabetes mellitus and early onset of cardiovascular disease in offspringTocantins, Carolina ; Diniz, Mariana S. ; Grilo, Luís F. ; Pereira, Susana P.Wiley interdisciplinary reviews. Mechanisms of disease, 2022-07, Vol.14 (4), p.e1555-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |