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Material Type: Artigo
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Characterization and evolutionary implications of the triad Asp-Xxx-Glu in group II phosphopantetheinyl transferasesWang, Yue-Yue ; Li, Yu-Dong ; Liu, Jian-Bo ; Ran, Xin-Xin ; Guo, Yuan-Yang ; Ren, Ni-Ni ; Chen, Xin ; Jiang, Hui ; Li, Yong-Quan Jeltsch, AlbertPloS one, 2014-07, Vol.9 (7), p.e103031-e103031 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Thermostability engineering of industrial enzymes through structure modificationNezhad, Nima Ghahremani ; Rahman, Raja Noor Zaliha Raja Abd ; Normi, Yahaya M. ; Oslan, Siti Nurbaya ; Shariff, Fairolniza Mohd ; Leow, Thean ChorApplied microbiology and biotechnology, 2022-08, Vol.106 (13-16), p.4845-4866 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Molecular evolutionary and structural analysis of familial exudative vitreoretinopathy associated FZD4 geneSeemab, Suman ; Pervaiz, Nashaiman ; Zehra, Rabail ; Anwar, Saneela ; Bao, Yiming ; Abbasi, Amir AliBMC ecology and evolution, 2019-03, Vol.19 (1), p.72-72, Article 72 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Is the prevalence of Klinefelter syndrome increasing?MORRIS, Joan K ; ALBERMAN, Eva ; SCOTT, Claire ; JACOBS, PatriciaEuropean journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |
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Material Type: Artigo
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Triple X syndrome: a review of the literatureOTTER, Maarten ; SCHRANDER-STUMPEL, Constance T. R. M ; CURFS, Leopold M. GEuropean journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromeHarbuz, Radu ; Lespinasse, James ; Boulet, Stéphanie ; Francannet, Christine ; Creveaux, Isabelle ; Benkhelifa, Mariem ; Jouk, Pierre-Simon ; Lunardi, Joël ; Ray, Pierre F.Prenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Assessing the role of placental trisomy in preeclampsia and intrauterine growth restrictionRobinson, Wendy P. ; Peñaherrera, Maria S. ; Jiang, Ruby ; Avila, Luana ; Sloan, Jennifer ; McFadden, Deborah E. ; Langlois, Sylvie ; von Dadelszen, PeterPrenatal diagnosis, 2010-01, Vol.30 (1), p.1-8 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromesShaffer, Lisa G. ; Coppinger, Justine ; Morton, S. Annie ; Alliman, Sarah ; Burleson, Jessica ; Traylor, Ryan ; Walker, Cathryn ; Byerly, Steve ; Lamb, Allen N. ; Schultz, Roger ; Ravnan, J. Britt ; Kashork, Catherine D. ; Torchia, Beth S. ; Sulpizio, Scott ; Sundin, Kyle ; Schermer, Mack ; Adler, Karl ; Dallaire, Stephanie ; Ballif, Blake C.Prenatal diagnosis, 2011-08, Vol.31 (8), p.778-787 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyBOYD, Patricia Anne ; LOANE, Maria ; GARNE, Ester ; KHOSHNOOD, Babak ; DOLK, HelenEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive functionNAGAMANI, Sandesh C. S ; EREZ, Ayelet ; NELSON, David ; PATEL, Ankita ; SAU WAI CHEUNG ; PROBST, Frank J ; BADER, Patricia ; EVANS, Patricia ; BAKER, Linda A ; PING FANG ; BERTIN, Terry ; HIXSON, Patricia ; STANKIEWICZ, PawelNeurogenetics, 2012-11, Vol.13 (4), p.333-339 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |