Works matching IS 15537390 AND DT 2017 AND VI 13 AND IP 1


Results: 53
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    Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006536
    By:
    • Ogden, Kevin K.;
    • Chen, Wenjuan;
    • Swanger, Sharon A.;
    • McDaniel, Miranda J.;
    • Fan, Linlin Z.;
    • Hu, Chun;
    • Tankovic, Anel;
    • Kusumoto, Hirofumi;
    • Kosobucki, Gabrielle J.;
    • Schulien, Anthony J.;
    • Su, Zhuocheng;
    • Pecha, Joseph;
    • Bhattacharya, Subhrajit;
    • Petrovski, Slavé;
    • Cohen, Adam E.;
    • Aizenman, Elias;
    • Traynelis, Stephen F.;
    • Yuan, Hongjie
    Publication type:
    Article
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    Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006470
    By:
    • Muggenthaler, Martina M. A.;
    • Harlalka, Gaurav V.;
    • Baple, Emma L.;
    • Crosby, Andrew H.;
    • Chioza, Barry A.;
    • Patton, Michael A.;
    • Blakley, Brian;
    • Jackson, Mike;
    • Lees, Melissa;
    • Dolinsky, Vernon;
    • Cross, Leroy;
    • Salter, Claire;
    • Alkuraya, Fowzan S.;
    • Chowdhury, Biswajit;
    • Hasan, S. Naimul;
    • Triggs-Raine, Barbara;
    • Cross, Harold E.;
    • Mark, Brian;
    • Ishida, Miho;
    • Stanier, Philip
    Publication type:
    Article
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    Genomes of Fasciola hepatica from the Americas Reveal Colonization with Neorickettsia Endobacteria Related to the Agents of Potomac Horse and Human Sennetsu Fevers.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006537
    By:
    • McNulty, Samantha N.;
    • Rosa, Bruce A.;
    • Choi, Young-Jun;
    • Tyagi, Rahul;
    • Hallsworth-Pepin, Kymberlie;
    • Mitreva, Makedonka;
    • Tort, Jose F.;
    • Smircich, Pablo;
    • Fontenla, Santiago;
    • Dell'Oca, Nicolas;
    • Dominguez, Fernanda;
    • Rinaldi, Gabriel;
    • Mann, Victoria H.;
    • Brindley, Paul J.;
    • Fischer, Kerstin;
    • Fischer, Peter U.;
    • Kammili, Lakshmi;
    • Latham, Patricia S.;
    • Carmona, Carlos
    Publication type:
    Article
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    SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.

    Published in:
    PLoS Genetics, 2017, v. 13, n. 1, p. 1, doi. 10.1371/journal.pgen.1006552
    By:
    • Calamita, Piera;
    • Miluzio, Annarita;
    • Russo, Arianna;
    • Pesce, Elisa;
    • Ricciardi, Sara;
    • Khanim, Farhat;
    • Cheroni, Cristina;
    • Alfieri, Roberta;
    • Mancino, Marilena;
    • Gorrini, Chiara;
    • Rossetti, Grazisa;
    • Peluso, Ivana;
    • Pagani, Massimiliano;
    • Medina, Diego L.;
    • Rommens, Johanna;
    • Biffo, Stefano
    Publication type:
    Article
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