Works matching DE "MONOGENIC systems"


Results: 30
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    Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

    Published in:
    BMC Genomics, 2014, v. 15, n. 1, p. 921, doi. 10.1186/1471-2164-15-1090
    By:
    • Stranneheim, Henrik;
    • Engvall, Martin;
    • Naess, Karin;
    • Lesko, Nicole;
    • Larsson, Pontus;
    • Dahlberg, Mats;
    • Andeer, Robin;
    • Wredenberg, Anna;
    • Freyer, Chris;
    • Barbaro, Michela;
    • Bruhn, Helene;
    • Emahazion, Tesfail;
    • Magnusson, Måns;
    • Wibom, Rolf;
    • Zetterström, Rolf H.;
    • Wirta, Valtteri;
    • von Döbeln, Ulrika;
    • Wedell, Anna
    Publication type:
    Article
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    cgmisc: enhanced genome-wide association analyses and visualization.

    Published in:
    Bioinformatics, 2015, v. 31, n. 23, p. 3830, doi. 10.1093/bioinformatics/btv426
    By:
    • Kierczak, Marcin;
    • Jabłońska, Jagoda;
    • Forsberg, Simon K. G.;
    • Bianchi, Matteo;
    • Tengvall, Katarina;
    • Pettersson, Mats;
    • Scholz, Veronika;
    • Meadows, Jennifer R. S.;
    • Jern, Patric;
    • Carlborg, Örjan;
    • Lindblad-Toh, Kerstin
    Publication type:
    Article
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    Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF).

    Published in:
    PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079933
    By:
    • Pinelli, Michele;
    • Acquaviva, Fabio;
    • Barbetti, Fabrizio;
    • Caredda, Elisabetta;
    • Cocozza, Sergio;
    • Delvecchio, Maurizio;
    • Mozzillo, Enza;
    • Pirozzi, Daniele;
    • Prisco, Francesco;
    • Rabbone, Ivana;
    • Sacchetti, Lucia;
    • Tinto, Nadia;
    • Toni, Sonia;
    • Zucchini, Stefano;
    • Iafusco, Dario
    Publication type:
    Article
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    Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.

    Published in:
    2021
    By:
    • Shieh, Joseph T.;
    • Penon-Portmann, Monica;
    • Wong, Karen H. Y.;
    • Levy-Sakin, Michal;
    • Verghese, Michelle;
    • Slavotinek, Anne;
    • Gallagher, Renata C.;
    • Mendelsohn, Bryce A.;
    • Tenney, Jessica;
    • Beleford, Daniah;
    • Perry, Hazel;
    • Chow, Stephen K.;
    • Sharo, Andrew G.;
    • Brenner, Steven E.;
    • Qi, Zhongxia;
    • Yu, Jingwei;
    • Klein, Ophir D.;
    • Martin, David;
    • Kwok, Pui-Yan;
    • Boffelli, Dario
    Publication type:
    Correction Notice