Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 9

Results: 47
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    Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2161, doi. 10.1002/ajmg.a.36611
    By:
    • Poulton, Cathryn J.;
    • Schot, Rachel;
    • Seufert, Katja;
    • Lequin, Maarten H.;
    • Accogli, Andrea;
    • Annunzio, Giuseppe D';
    • Villard, Laurent;
    • Philip, Nicole;
    • de Coo, René;
    • Catsman‐Berrevoets, Coriene;
    • Grasshoff, Ute;
    • Kattentidt‐Mouravieva, Anja;
    • Calf, Hans;
    • de Vreugt‐Gronloh, Erika;
    • van Unen, Leontine;
    • Verheijen, Frans W.;
    • Galjart, Niels;
    • Morris‐Rosendahl, Deborah J.;
    • Mancini, Grazia M. S.
    Publication type:
    Article
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    Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2360, doi. 10.1002/ajmg.a.36622
    By:
    • Cohen, Ana S. A.;
    • Townsend, Katelin N.;
    • Xiang, Qing‐San;
    • Attariwala, Raj;
    • Borchers, Christof;
    • Senger, Christof;
    • Picker, Wayne;
    • Levi, Jasna;
    • Yewchuk, Lila;
    • Tan, Joelle;
    • Eydoux, Patrice;
    • Lum, Amy;
    • Yong, Siu‐Li;
    • McKinnon, Margaret L.;
    • Lear, Scott A.;
    • Everett, Robert;
    • Jones, Steven J. M.;
    • Yip, Stephen;
    • Gibson, William T.
    Publication type:
    Article
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    Stuve-Wiedemann syndrome: Is it underrecognized?

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2200, doi. 10.1002/ajmg.a.36626
    By:
    • Yeşil, Gözde;
    • Lebre, Anne Sophie;
    • Santos, Sofia Dos;
    • Güran, Ömer;
    • Özahi, Ilke Ipek;
    • Daire, Valeria Cormier;
    • Güran, Tülay
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. x, doi. 10.1002/ajmg.a.36734
    Publication type:
    Article
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    Skin findings in Williams syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2217, doi. 10.1002/ajmg.a.36628
    By:
    • Kozel, Beth A.;
    • Bayliss, Susan J.;
    • Berk, David R.;
    • Waxler, Jessica L.;
    • Knutsen, Russell H.;
    • Danback, Joshua R.;
    • Pober, Barbara R.
    Publication type:
    Article
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    Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2317, doi. 10.1002/ajmg.a.36668
    By:
    • Nampoothiri, Sheela;
    • Yesodharan, Dhanya;
    • Sainulabdin, Gazel;
    • Narayanan, Dhanyalakshmi;
    • Padmanabhan, Laxmi;
    • Girisha, Katta Mohan;
    • Cathey, Sara S.;
    • De Paepe, Anne;
    • Malfait, Fransiska;
    • Syx, Delfien;
    • Hennekam, Raoul C.;
    • Bonafe, Luisa;
    • Unger, Sheila;
    • Superti‐Furga, Andrea
    Publication type:
    Article
    34

    The Habsburg Jaw-Re-examined.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2263, doi. 10.1002/ajmg.a.36639
    By:
    • Peacock, Zachary S.;
    • Klein, Katherine P.;
    • Mulliken, John B.;
    • Kaban, Leonard B.
    Publication type:
    Article
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    Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2328, doi. 10.1002/ajmg.a.36678
    By:
    • Bayram, Yavuz;
    • Pehlivan, Davut;
    • Karaca, Ender;
    • Gambin, Tomasz;
    • Jhangiani, Shalini N.;
    • Erdin, Serkan;
    • Gonzaga‐Jauregui, Claudia;
    • Wiszniewski, Wojciech;
    • Muzny, Donna;
    • Elcioglu, Nursel H.;
    • Yildirim, M. Selman;
    • Bozkurt, Banu;
    • Zamani, Ayse Gul;
    • Boerwinkle, Eric;
    • Gibbs, Richard A.;
    • Lupski, James R.
    Publication type:
    Article
    47

    Are 22q11.2 distal deletions associated with math difficulties?

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2256, doi. 10.1002/ajmg.a.36649
    By:
    • Carvalho, Maria Raquel Santos;
    • Vianna, Gabrielle;
    • Oliveira, Lívia de Fátima Silva;
    • Costa, Annelise Julio;
    • Pinheiro‐Chagas, Pedro;
    • Sturzenecker, Rosane;
    • Zen, Paulo Ricardo Gazzola;
    • Rosa, Rafael Fabiano Machado;
    • de Aguiar, Marcos José Burle;
    • Haase, Vitor Geraldi
    Publication type:
    Article