Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 9

Results: 43
    1

    Cover Image, Volume 176A, Number 9, September 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1, doi. 10.1002/ajmg.a.40660
    By:
    • Burren, Christine P.;
    • Caswell, Richard;
    • Castle, Bruce;
    • Welch, C. Ross;
    • Hilliard, Tom N.;
    • Smithson, Sarah F.;
    • Ellard, Sian
    Publication type:
    Article
    2

    In This Issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1796, doi. 10.1002/ajmg.a.40648
    Publication type:
    Article
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    Early inspirations from times gone by.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1797, doi. 10.1002/ajmg.a.40474
    By:
    • Slavotinek, Anne;
    • Solomon, Benjamin D.;
    • Muenke, Maximilian
    Publication type:
    Article
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    Further delineation of spondyloepimetaphyseal dysplasia Faden‐Alkuraya type: A RSPRY1‐associated spondylo‐epi‐metaphyseal dysplasia with cono‐brachydactyly and craniosynostosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 2009, doi. 10.1002/ajmg.a.40427
    By:
    • Simsek‐Kiper, Pelin O.;
    • Taskiran, Ekim Z.;
    • Kosukcu, Can;
    • Urel‐Demir, Gizem;
    • Akgun‐Dogan, Ozlem;
    • Yilmaz, Guney;
    • Utine, Gulen E.;
    • Nishimura, Gen;
    • Boduroglu, Koray;
    • Alikasifoglu, Mehmet
    Publication type:
    Article
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    A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
    By:
    • Lumaka, Aimé;
    • Race, Valerie;
    • Peeters, Hilde;
    • Corveleyn, Anniek;
    • Coban‐Akdemir, Zeynep;
    • Jhangiani, Shalini N.;
    • Song, Xiaofei;
    • Mubungu, Gerrye;
    • Posey, Jennifer;
    • Lupski, James R.;
    • Vermeesch, Joris R.;
    • Lukusa, Prosper;
    • Devriendt, Koenraad
    Publication type:
    Article
    20

    Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1890, doi. 10.1002/ajmg.a.40380
    By:
    • Ritter, Alyssa L.;
    • McDougall, Carey;
    • Skraban, Cara;
    • Medne, Livija;
    • Bedoukian, Emma C.;
    • Asher, Stephanie B.;
    • Balciuniene, Jorune;
    • Campbell, Colleen D.;
    • Baker, Samuel W.;
    • Denenberg, Elizabeth H.;
    • Mazzola, Sarah;
    • Fiordaliso, Sarah K.;
    • Krantz, Ian D.;
    • Kaplan, Paige;
    • Ierardi‐Curto, Lynne;
    • Santani, Avni B.;
    • Zackai, Elaine H.;
    • Izumi, Kosuke
    Publication type:
    Article
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    Health supervision for people with Bloom syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1872, doi. 10.1002/ajmg.a.40374
    By:
    • Cunniff, Christopher;
    • Djavid, Amir Reza;
    • Carrubba, Steven;
    • Cohen, Bernard;
    • Ellis, Nathan A.;
    • Levy, Carolyn Fein;
    • Jeong, Stacy;
    • Lederman, Howard M.;
    • Vogiatzi, Maria;
    • Walsh, Michael F.;
    • Zauber, Ann Graham
    Publication type:
    Article
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    De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1845, doi. 10.1002/ajmg.a.40368
    By:
    • Douglas, Ganka;
    • Cho, Megan T.;
    • Telegrafi, Aida;
    • Winter, Susan;
    • Carmichael, Jason;
    • Zackai, Elaine H.;
    • Deardorff, Matthew A.;
    • Harr, Margaret;
    • Williams, Linford;
    • Psychogios, Apostolos;
    • Erwin, Angelika L.;
    • Grebe, Theresa;
    • Retterer, Kyle;
    • Juusola, Jane
    Publication type:
    Article
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    Ocular manifestations of Emanuel syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1964, doi. 10.1002/ajmg.a.40361
    By:
    • Saffren, Brooke D.;
    • Capasso, Jenina E.;
    • Zanolli, Mario;
    • Levin, Alex V.
    Publication type:
    Article
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    Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21‐year period.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1799, doi. 10.1002/ajmg.a.40351
    By:
    • Lin, Hsiang‐Yu;
    • Chuang, Chih‐Kuang;
    • Lee, Chung‐Lin;
    • Tu, Ru‐Yi;
    • Lo, Yun‐Ting;
    • Chiu, Pao Chin;
    • Niu, Dau‐Ming;
    • Fang, Yi‐Ya;
    • Chen, Tzu‐Lin;
    • Tsai, Fuu‐Jen;
    • Hwu, Wuh‐Liang;
    • Lin, Shio Jean;
    • Chang, Tung‐Ming;
    • Lin, Shuan‐Pei
    Publication type:
    Article
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    Publication schedule for 2018.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1792, doi. 10.1002/ajmg.a.38446
    Publication type:
    Article
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