Works in Molecular Genetics & Genomic Medicine, 2019, Vol 7, Issue 7


Results: 70
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    Cover.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.853
    By:
    • Ma, Jing;
    • Lin, Ken;
    • Jiang, Hong‐chao;
    • Yang, Yanli;
    • Zhang, Yu;
    • Yang, Guilian;
    • Sun, Hao;
    • Ming, Cheng;
    • Bi, Xianyun;
    • Zhang, Tiesong;
    • Ruan, Biao
    Publication type:
    Article
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    Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.796
    By:
    • Brunelli, Luca;
    • Jenkins, Sabrina M.;
    • Gudgeon, James M.;
    • Bleyl, Steven B.;
    • Miller, Christine E.;
    • Tvrdik, Tatiana;
    • Dames, Shale A.;
    • Ostrander, Betsy;
    • Daboub, Josue A. F.;
    • Zielinski, Brandon A.;
    • Zinkhan, Erin K.;
    • Underhill, Hunter R.;
    • Wilson, Theodore;
    • Bonkowsky, Joshua L.;
    • Yost, Christian C.;
    • Botto, Lorenzo D.;
    • Jenkins, Justin;
    • Pysher, Theodore J.;
    • Bayrak‐Toydemir, Pinar;
    • Mao, Rong
    Publication type:
    Article
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    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN).

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.736
    By:
    • Gregory, Allison;
    • Lotia, Mitesh;
    • Jeong, Suh Young;
    • Fox, Rachel;
    • Zhen, Dolly;
    • Sanford, Lynn;
    • Hamada, Jeff;
    • Jahic, Amir;
    • Beetz, Christian;
    • Freed, Alison;
    • Kurian, Manju A.;
    • Cullup, Thomas;
    • Weijden, Marlous C. M.;
    • Nguyen, Vy;
    • Setthavongsack, Naly;
    • Garcia, Daphne;
    • Krajbich, Victoria;
    • Pham, Thao;
    • Woltjer, Randy;
    • George, Benjamin P.
    Publication type:
    Article
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    Association of a homozygous GCK missense mutation with mild diabetes.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.728
    By:
    • Marucci, Antonella;
    • Biagini, Tommaso;
    • Di Paola, Rosa;
    • Menzaghi, Claudia;
    • Fini, Grazia;
    • Castellana, Stefano;
    • Cardinale, Giuliana Marcella;
    • Mazza, Tommaso;
    • Trischitta, Vincenzo
    Publication type:
    Article
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    Influence of common SCN1A promoter variants on the severity of SCN1A‐related phenotypes.

    Published in:
    Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.727
    By:
    • Lange, Iris M.;
    • Weuring, Wout;
    • 't Slot, Ruben;
    • Gunning, Boudewijn;
    • Sonsma, Anja C. M.;
    • McCormack, Mark;
    • Kovel, Carolien;
    • Gemert, Lisette J. J. M.;
    • Mulder, Flip;
    • Kempen, Marjan J. A.;
    • Knoers, Nine V. A. M.;
    • Brilstra, Eva H.;
    • Koeleman, Bobby P. C.
    Publication type:
    Article