Works matching IS 15524825 AND DT 2012 AND VI 158A AND IP 8


Results: 47
    1

    Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1857, doi. 10.1002/ajmg.a.34411
    By:
    • Fattahi, Zohreh;
    • Shearer, A. Eliot;
    • Babanejad, Mojgan;
    • Bazazzadegan, Niloofar;
    • Almadani, Seyed Navid;
    • Nikzat, Nooshin;
    • Jalalvand, Khadijeh;
    • Arzhangi, Sanaz;
    • Esteghamat, Fatemehsadat;
    • Abtahi, Rezvan;
    • Azadeh, Batool;
    • Smith, Richard J.H.;
    • Kahrizi, Kimia;
    • Najmabadi, Hossein
    Publication type:
    Article
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    Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2003, doi. 10.1002/ajmg.a.35454
    By:
    • Kokitsu-Nakata, Nancy Mizue;
    • Petrin, Aline Lourenço;
    • Heard, Jason Paul;
    • Vendramini-Pittoli, Siulan;
    • Henkle, Laura E;
    • dos Santos, Daniela Vera Cruz;
    • Murray, Jeffrey Clark;
    • Richieri-Costa, Antonio
    Publication type:
    Article
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    Congenital corneal staphyloma as a complication of Kabuki syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2000, doi. 10.1002/ajmg.a.35453
    By:
    • Tanaka, Ryuma;
    • Takenouchi, Toshiki;
    • Uchida, Keiko;
    • Sato, Takeshi;
    • Fukushima, Hiroyuki;
    • Yoshihashi, Hiroshi;
    • Takahashi, Takao;
    • Tsubota, Kazuo;
    • Kosaki, Kenjiro
    Publication type:
    Article
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    Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1891, doi. 10.1002/ajmg.a.35439
    By:
    • Hosoki, Kana;
    • Ohta, Tohru;
    • Natsume, Jun;
    • Imai, Sumiko;
    • Okumura, Akihisa;
    • Matsui, Takeshi;
    • Harada, Naoki;
    • Bacino, Carlos A.;
    • Scaglia, Fernando;
    • Jones, Jeremy Y.;
    • Niikawa, Norio;
    • Saitoh, Shinji
    Publication type:
    Article
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    Antiepileptic drugs and pregnancy outcomes.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2071, doi. 10.1002/ajmg.a.35438
    By:
    • Wlodarczyk, Bogdan J.;
    • Palacios, Ana M.;
    • George, Timothy M.;
    • Finnell, Richard H.
    Publication type:
    Article
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    Acro-cardio-facial syndrome: A microdeletion syndrome?

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1994, doi. 10.1002/ajmg.a.35444
    By:
    • Toschi, Benedetta;
    • Valetto, Angelo;
    • Bertini, Veronica;
    • Congregati, Caterina;
    • Cantinotti, Massimiliano;
    • Assanta, Nadia;
    • Simi, Paolo
    Publication type:
    Article
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    Genetic studies in congenital anterior midline cervical cleft.

    Published in:
    American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 2021, doi. 10.1002/ajmg.a.35466
    By:
    • Jakobsen, L.P.;
    • Pfeiffer, P.;
    • Andersen, M.;
    • Eiberg, H.;
    • Hansen, L.;
    • Mang, Y.;
    • Bak, M.;
    • Møller, R.S.;
    • Klitten, L.L.;
    • Tommerup, N.
    Publication type:
    Article
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