Works matching IS 15524825 AND DT 2014 AND VI 164A AND IP 3


Results: 51
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    SNAI2 mutation causes human piebaldism.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 855, doi. 10.1002/ajmg.a.36332
    By:
    • Yang, Yong‐jia;
    • Zhao, Rui;
    • He, Xin‐yu;
    • Li, Li‐ping;
    • Chen, Weijian;
    • Wang, Ke‐wei;
    • Zhao, Liu;
    • Tu, Ming;
    • Tang, Jin‐song;
    • Xie, Zhi‐guo;
    • Zhu, Yi‐min
    Publication type:
    Article
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    In this issue.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. xii, doi. 10.1002/ajmg.a.36462
    Publication type:
    Article
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    Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 769, doi. 10.1002/ajmg.a.36331
    By:
    • Tran Mau‐Them, Frédéric;
    • Boualam, Aurélia;
    • Barat‐Houari, Mouna;
    • Jeandel, Claire;
    • Cottalorda, Jérôme;
    • Cormier‐Daire, Valérie;
    • Fabre, Aurélie;
    • Dumont, Bruno;
    • Lefort, Geneviève;
    • Baujat, Geneviève;
    • Le Merrer, Martine;
    • Jorgensen, Christian;
    • Touitou, Isabelle;
    • Geneviève, David
    Publication type:
    Article
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    Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 639, doi. 10.1002/ajmg.a.36330
    By:
    • Martínez‐Frías, María Luisa;
    • Ocejo‐Vinyals, Javier Gonzalo;
    • Arteaga, Rosa;
    • Martínez‐Fernández, María Luisa;
    • MacDonald, Alexandra;
    • Pérez‐Belmonte, Elena;
    • Bermejo‐Sánchez, Eva;
    • Martínez, Salvador
    Publication type:
    Article
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    Focal dermal hypoplasia without focal dermal hypoplasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 778, doi. 10.1002/ajmg.a.36341
    By:
    • Contreras‐Capetillo, Silvina N.;
    • Lombardi, Maria Paola;
    • Pinto‐Escalante, Doris;
    • Hennekam, Raoul C.
    Publication type:
    Article
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    CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 563, doi. 10.1002/ajmg.a.36312
    By:
    • Widemann, Brigitte C.;
    • Acosta, Maria T.;
    • Ammoun, Sylvia;
    • Belzberg, Allan J.;
    • Bernards, Andre;
    • Blakeley, Jaishri;
    • Bretscher, Antony;
    • Cichowski, Karen;
    • Clapp, D. Wade;
    • Dombi, Eva;
    • Evans, Gareth D.;
    • Ferner, Rosalie;
    • Fernandez‐Valle, Cristina;
    • Fisher, Michael J.;
    • Giovannini, Marco;
    • Gutmann, David H.;
    • Hanemann, C. Oliver;
    • Hennigan, Robert;
    • Huson, Susan;
    • Ingram, David
    Publication type:
    Article
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    Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 648, doi. 10.1002/ajmg.a.36323
    By:
    • Alessandri, Jean‐Luc;
    • Cuillier, Fabrice;
    • Malan, Valerie;
    • Brayer, Claire;
    • Grondard, Maeva;
    • Jacquemot‐Dekkak, Laure;
    • Kieffer‐Traversier, Marie;
    • Pierre, Florence;
    • Laurain, Céline;
    • Samperiz, Sylvain;
    • Tiran‐Rajaofera, Isabelle;
    • Ramful, Duksha
    Publication type:
    Article
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    Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
    By:
    • Vanderver, Adeline;
    • Tonduti, Davide;
    • Kahn, Ilana;
    • Schmidt, Johanna;
    • Medne, Livija;
    • Vento, Jodie;
    • Chapman, Kimberly A.;
    • Lanpher, Brendan;
    • Pearl, Phillip;
    • Gropman, Andrea;
    • Lourenco, Charles;
    • Bamforth, John‐Steven;
    • Sharpe, Cynthia;
    • Pineda, Mercédes;
    • Schallner, Jens;
    • Bodamer, Olaf;
    • Orcesi, Simona;
    • Oberstein, Saskia A. J. Lesnik;
    • Sistermans, Erik A.;
    • Yntema, Helger G.
    Publication type:
    Article
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    Amyoplasia revisited.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 700, doi. 10.1002/ajmg.a.36395
    By:
    • Hall, Judith G.;
    • Aldinger, Kimberly A.;
    • Tanaka, Kimi I.
    Publication type:
    Article
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    Stillbirth: The heart of the matter.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 691, doi. 10.1002/ajmg.a.36366
    By:
    • Jorgensen, Michael;
    • McPherson, Elizabeth;
    • Zaleski, Christina;
    • Shivaram, Pushpa;
    • Cold, Christopher
    Publication type:
    Article
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    Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 597, doi. 10.1002/ajmg.a.36308
    By:
    • Shimizu, Kenji;
    • Wakui, Keiko;
    • Kosho, Tomoki;
    • Okamoto, Nobuhiko;
    • Mizuno, Seiji;
    • Itomi, Kazuya;
    • Hattori, Shigeto;
    • Nishio, Kimio;
    • Samura, Osamu;
    • Kobayashi, Yoshiyuki;
    • Kako, Yuko;
    • Arai, Takashi;
    • Oh‐ishi, Tsutomu;
    • Kawame, Hiroshi;
    • Narumi, Yoko;
    • Ohashi, Hirofumi;
    • Fukushima, Yoshimitsu
    Publication type:
    Article
    48

    Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 789, doi. 10.1002/ajmg.a.36348
    By:
    • Masurel‐Paulet, Alice;
    • Kalscheuer, Vera M.;
    • Lebrun, Nicolas;
    • Hu, Hao;
    • Levy, Fabienne;
    • Thauvin‐Robinet, Christel;
    • Darmency‐Stamboul, Véronique;
    • El Chehadeh, Salima;
    • Thevenon, Julien;
    • Chancenotte, Sophie;
    • Ruffier‐Bourdet, Marie;
    • Bonnet, Marlène;
    • Pinoit, Jean‐Michel;
    • Huet, Frédéric;
    • Desportes, Vincent;
    • Chelly, Jamel;
    • Faivre, Laurence
    Publication type:
    Article
    49

    Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: Characterization and evaluation of the aberrations.

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 736, doi. 10.1002/ajmg.a.36319
    By:
    • Schwanitz, Gesa;
    • Hagh, Javad Karim Zad;
    • Rad, Isa Abdi;
    • Omrani, Mir Davood;
    • Gamerdinger, Ulrike;
    • Schubert, Regine;
    • Elbracht, Miriam;
    • Eggermann, Thomas;
    • Eggermann, Katja;
    • Spengler, Sabrina;
    • Schüler, Herdit;
    • Gogiel, Magdalena
    Publication type:
    Article
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