Works matching IS 10597794 AND DT 2014 AND VI 35 AND IP 7

Results: 18
    1

    STK11 Domain XI Mutations: Candidate Genetic Drivers Leading to the Development of Dysplastic Polyps in Peutz- Jeghers Syndrome.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 851, doi. 10.1002/humu.22549
    By:
    • Wang, Zhiqing;
    • Wu, Baoping;
    • Mosig, Rebecca A.;
    • Chen, Yulan;
    • Ye, Fei;
    • Zhang, Yali;
    • Gong, Wei;
    • Gong, Lanbo;
    • Huang, Fei;
    • Wang, Xinying;
    • Nie, Biao;
    • Zheng, Haoxuan;
    • Cui, Miao;
    • Wang, Yadong;
    • Wang, Juan;
    • Chen, Chudi;
    • Polydorides, Alexandros D.;
    • Zhang, David Y.;
    • Martignetti, John A.;
    • Jiang, Bo
    Publication type:
    Article
    2

    TCIRG1-Associated Congenital Neutropenia.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 824, doi. 10.1002/humu.22563
    By:
    • Makaryan, Vahagn;
    • Rosenthal, Elisabeth A.;
    • Bolyard, Audrey Anna;
    • Kelley, Merideth L.;
    • Below, Jennifer E.;
    • Bamshad, Michael J.;
    • Bofferding, Kathryn M.;
    • Smith, Joshua D.;
    • Buckingham, Kati;
    • Boxer, Laurence A.;
    • Skokowa, Julia;
    • Welte, Karl;
    • Nickerson, Deborah A.;
    • Jarvik, Gail P.;
    • Dale, David C.
    Publication type:
    Article
    3

    Cadherin 5 is Regulated by Corticosteroids and Associated with Central Serous Chorioretinopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 859, doi. 10.1002/humu.22551
    By:
    • Schubert, Carl;
    • Pryds, Anders;
    • Zeng, Shemin;
    • Xie, Yajing;
    • Freund, K. Bailey;
    • Spaide, Richard F.;
    • Merriam, John C.;
    • Barbazetto, Irene;
    • Slakter, Jason S.;
    • Chang, Stanley;
    • Munch, Inger C.;
    • Drack, Arlene V.;
    • Hernandez, Jasmine;
    • Yzer, Suzanne;
    • Merriam, Joanna E.;
    • Linneberg, Allan;
    • Larsen, Michael;
    • Yannuzzi, Lawrence A.;
    • Mullins, Robert F.;
    • Allikmets, Rando
    Publication type:
    Article
    4
    5

    Mutation Update and Genotype-Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 779, doi. 10.1002/humu.22554
    By:
    • Marttila, Minttu;
    • Lehtokari, Vilma‐Lotta;
    • Marston, Steven;
    • Nyman, Tuula A.;
    • Barnerias, Christine;
    • Beggs, Alan H.;
    • Bertini, Enrico;
    • Ceyhan‐Birsoy, Özge;
    • Cintas, Pascal;
    • Gerard, Marion;
    • Gilbert‐Dussardier, Brigitte;
    • Hogue, Jacob S.;
    • Longman, Cheryl;
    • Eymard, Bruno;
    • Frydman, Moshe;
    • Kang, Peter B.;
    • Klinge, Lars;
    • Kolski, Hanna;
    • Lochmüller, Hans;
    • Magy, Laurent
    Publication type:
    Article
    6

    Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin ( MYH7) Distal Myopathy.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 868, doi. 10.1002/humu.22553
    By:
    • Lamont, Phillipa J.;
    • Wallefeld, William;
    • Hilton‐Jones, David;
    • Udd, Bjarne;
    • Argov, Zohar;
    • Barboi, Alexandru C.;
    • Bonneman, Carsten;
    • Boycott, Kym M.;
    • Bushby, Kate;
    • Connolly, Anne M.;
    • Davies, Nicholas;
    • Beggs, Alan H.;
    • Cox, Gerald F.;
    • Dastgir, Jahannaz;
    • DeChene, Elizabeth T.;
    • Gooding, Rebecca;
    • Jungbluth, Heinz;
    • Muelas, Nuria;
    • Palmio, Johanna;
    • Penttilä, Sini
    Publication type:
    Article
    7
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    12

    Contents.

    Published in:
    2014
    Publication type:
    Other
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    15

    Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients.

    Published in:
    Human Mutation, 2014, v. 35, n. 7, p. 841, doi. 10.1002/humu.22547
    By:
    • Micale, Lucia;
    • Augello, Bartolomeo;
    • Maffeo, Claudia;
    • Selicorni, Angelo;
    • Zucchetti, Federica;
    • Fusco, Carmela;
    • De Nittis, Pasquelena;
    • Pellico, Maria Teresa;
    • Mandriani, Barbara;
    • Fischetto, Rita;
    • Boccone, Loredana;
    • Silengo, Margherita;
    • Biamino, Elisa;
    • Perria, Chiara;
    • Sotgiu, Stefano;
    • Serra, Gigliola;
    • Lapi, Elisabetta;
    • Neri, Marcella;
    • Ferlini, Alessandra;
    • Cavaliere, Maria Luigia
    Publication type:
    Article
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