Works matching IS 15524825 AND DT 2015 AND VI 167A AND IP 4

Results: 49
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    Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: Palliative treatment with a rapamycin analog.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 744, doi. 10.1002/ajmg.a.36982
    By:
    • Hahn, Andreas;
    • Lauriol, Jessica;
    • Thul, Josef;
    • Behnke‐Hall, Kachina;
    • Logeswaran, Tushiha;
    • Schänzer, Anne;
    • Böğürcü, Nuray;
    • Garvalov, Boyan K.;
    • Zenker, Martin;
    • Gelb, Bruce D.;
    • von Gerlach, Susanne;
    • Kandolf, Reinhard;
    • Kontaridis, Maria I.;
    • Schranz, Dietmar
    Publication type:
    Article
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    Mutations in PIGL in a patient with Mabry syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 777, doi. 10.1002/ajmg.a.36987
    By:
    • Fujiwara, Ikuma;
    • Murakami, Yoshiko;
    • Niihori, Tetsuya;
    • Kanno, Junko;
    • Hakoda, Akiko;
    • Sakamoto, Osamu;
    • Okamoto, Nobuhiko;
    • Funayama, Ryo;
    • Nagashima, Takeshi;
    • Nakayama, Keiko;
    • Kinoshita, Taroh;
    • Kure, Shigeo;
    • Matsubara, Yoichi;
    • Aoki, Yoko
    Publication type:
    Article
    7

    Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 902, doi. 10.1002/ajmg.a.36811
    By:
    • Barroso, Eva;
    • Berges‐Soria, Julia;
    • Benito‐Sanz, Sara;
    • Rivera‐Pedroza, Carlos Ivan;
    • Ballesta‐Martínez, María Juliana;
    • López‐González, Vanesa;
    • Guillen‐Navarro, Encarna;
    • Heath, Karen E
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. x, doi. 10.1002/ajmg.a.37061
    Publication type:
    Article
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    Remembered: Elisabeth G. Kaveggia.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 681, doi. 10.1002/ajmg.a.36885
    By:
    • Opitz, John M.;
    • Adkins, William N.
    Publication type:
    Article
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    Mosaic trisomy 15 in a liveborn infant.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 821, doi. 10.1002/ajmg.a.36958
    By:
    • McPadden, Jacob;
    • Helm, Benjamin M.;
    • Spangler, Brooke B.;
    • Ross, Leslie P.;
    • Boles, Debra B.;
    • Schrier Vergano, Samantha A.
    Publication type:
    Article
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    Novel STAMBP mutation and additional findings in an Arabic family.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 805, doi. 10.1002/ajmg.a.36782
    By:
    • Faqeih, Eissa A.;
    • Bastaki, Laila;
    • Rosti, Rasim Ozgur;
    • Spencer, Emily G.;
    • Zada, AbdulAli P.;
    • Saleh, Mohammad A. M.;
    • Um, Kyongmi;
    • Gleeson, Joseph G.
    Publication type:
    Article
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    FBN1 contributing to familial congenital diaphragmatic hernia.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
    By:
    • Beck, Tyler F.;
    • Campeau, Philippe M.;
    • Jhangiani, Shalini N.;
    • Gambin, Tomasz;
    • Li, Alexander H.;
    • Abo‐Zahrah, Reem;
    • Jordan, Valerie K.;
    • Hernandez‐Garcia, Andres;
    • Wiszniewski, Wojciech K.;
    • Muzny, Donna;
    • Gibbs, Richard A.;
    • Boerwinkle, Eric;
    • Lupski, James R.;
    • Lee, Brendan;
    • Reardon, Willie;
    • Scott, Daryl A.
    Publication type:
    Article
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