Found: 3

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  • Genotype-phenotype relationships in Freeman-Sheldon syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2808, doi. 10.1002/ajmg.a.36762
    By:
    • Beck, Anita E.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I. S.;
    • Shively, Kathryn M. B.;
    • Tang, Andy;
    • Bamshad, Michael J.
    Publication type:
    Article

  • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

    Published in:
    Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
    By:
    • Ng, Sarah B.;
    • Bigham, Abigail W.;
    • Buckingham, Kati J.;
    • Hannibal, Mark C.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Beck, Anita E.;
    • Tabor, Holly K.;
    • Cooper, Gregory M.;
    • Mefford, Heather C.;
    • Lee, Choli;
    • Turner, Emily H.;
    • Smith, Joshua D.;
    • Rieder, Mark J.;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Naomichi;
    • Ohta, Tohru;
    • Niikawa, Norio;
    • Nickerson, Deborah A.;
    • Bamshad, Michael J.
    Publication type:
    Article

  • Spectrum of MLL2 ( ALR) mutations in 110 cases of Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1511, doi. 10.1002/ajmg.a.34074
    By:
    • Hannibal, Mark C.;
    • Buckingham, Kati J.;
    • Ng, Sarah B.;
    • Ming, Jeffrey E.;
    • Beck, Anita E.;
    • McMillin, Margaret J.;
    • Gildersleeve, Heidi I.;
    • Bigham, Abigail W.;
    • Tabor, Holly K.;
    • Mefford, Heather C.;
    • Cook, Joseph;
    • Yoshiura, Koh-ichiro;
    • Matsumoto, Tadashi;
    • Matsumoto, Naomichi;
    • Miyake, Noriko;
    • Tonoki, Hidefumi;
    • Naritomi, Kenji;
    • Kaname, Tadashi;
    • Nagai, Toshiro;
    • Ohashi, Hirofumi
    Publication type:
    Article