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Material Type: Artigo
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Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosisEMOND, Mary J ; LOUIE, Tin ; BARNES, Kathleen C ; GIBSON, Ronald L ; BAMSHAD, Michael J ; EMERSON, Julia ; WEI ZHAO ; MATHIAS, Rasika A ; KNOWLES, Michael R ; WRIGHT, Fred A ; RIEDER, Mark J ; TABOR, Holly K ; NICKERSON, Deborah ANature genetics, 2012-08, Vol.44 (8), p.886-889 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndromeBOILEAU, Catherine ; GUO, Dong-Chuan ; BRAVERMAN, Alan C ; GRANDCHAMP, Bernard ; KWARTLER, Callie S ; GOUYA, Laurent ; SANTOS-CORTEZ, Regie Lyn P ; ABIFADEL, Marianne ; LEAL, Suzanne M ; MUTI, Christine ; SHENDURE, Jay ; GROSS, Marie-Sylvie ; HANNA, Nadine ; RIEDER, Mark J ; VAHANIAN, Alec ; NICKERSON, Deborah A ; MICHEL, Jean Baptiste ; JONDEAU, Guillaume ; MILEWICZ, Dianna M ; REGALADO, Ellen S ; DETAINT, Delphine ; LIMIN GONG ; VARRET, Mathilde ; PRAKASH, Siddharth K ; LI, Alexander H ; D'INDY, HyacinthaNature genetics, 2012-08, Vol.44 (8), p.916-921 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen GeneTompson, Stuart W. ; Bacino, Carlos A. ; Safina, Nicole P. ; Bober, Michael B. ; Proud, Virginia K. ; Funari, Tara ; Wangler, Michael F. ; Nevarez, Lisette ; Ala-Kokko, Leena ; Wilcox, William R. ; Eyre, David R. ; Krakow, Deborah ; Cohn, Daniel H.American journal of human genetics, 2010-11, Vol.87 (5), p.708-712 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |