Works matching IS 14739542 AND DT 2016 AND VI 10


Results: 39
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    A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0092-0
    By:
    • Ferreira, Elisa Napolitano;
    • Barros, Bruna Durães Figueiredo;
    • de Souza, Jorge Estefano;
    • Almeida, Renan Valieris;
    • Torrezan, Giovana Tardin;
    • Garcia, Sheila;
    • Krepischi, Ana Cristina Victorino;
    • de Mello, Celso Abdon Lopes;
    • da Cunha, Isabela Werneck;
    • Pinto, Clóvis Antonio Lopes;
    • Soares, Fernando Augusto;
    • Dias-Neto, Emmanuel;
    • Lopes, Ademar;
    • de Souza, Sandro José;
    • Carraro, Dirce Maria
    Publication type:
    Article
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    Novel genetic risk variants for pediatric celiac disease.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0091-1
    By:
    • Balasopoulou, Angeliki;
    • Stanković, Biljana;
    • Panagiotara, Angeliki;
    • Nikčevic, Gordana;
    • Peters, Brock A.;
    • John, Anne;
    • Mendrinou, Effrosyni;
    • Stratopoulos, Apostolos;
    • Legaki, Aigli Ioanna;
    • Stathakopoulou, Vasiliki;
    • Tsolia, Aristoniki;
    • Govaris, Nikolaos;
    • Govari, Sofia;
    • Zagoriti, Zoi;
    • Poulas, Konstantinos;
    • Kanariou, Maria;
    • Constantinidou, Nikki;
    • Krini, Maro;
    • Spanou, Kleopatra;
    • Radlovic, Nedeljko
    Publication type:
    Article
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    A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0089-8
    By:
    • Monies, Dorota;
    • Alhindi, Hindi N.;
    • Almuhaizea, Mohamed A.;
    • Abouelhoda, Mohamed;
    • Alazami, Anas M.;
    • Goljan, Ewa;
    • Alyounes, Banan;
    • Jaroudi, Dyala;
    • AlIssa, Abdulelah;
    • Alabdulrahman, Khalid;
    • Subhani, Shazia;
    • El-Kalioby, Mohamed;
    • Faquih, Tariq;
    • Wakil, Salma M.;
    • Altassan, Nada A.;
    • Meyer, Brian F.;
    • Bohlega, Saeed
    Publication type:
    Article
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    Transcriptome analysis reveals manifold mechanisms of cyst development in ADPKD.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0095-x
    By:
    • de Almeida, Rita M. C.;
    • Clendenon, Sherry G.;
    • Richards, William G.;
    • Boedigheimer, Michael;
    • Damore, Michael;
    • Rossetti, Sandro;
    • Harris, Peter C.;
    • Herbert, Britney-Shea;
    • Wei Min Xu;
    • Wandinger-Ness, Angela;
    • Ward, Heather H.;
    • Glazier, James A.;
    • Bacallao, Robert L.
    Publication type:
    Article
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    MicroRNAs in acute kidney injury.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0085-z
    By:
    • Pei-Chun Fan;
    • Chia-Chun Chen;
    • Yung-Chang Chen;
    • Yu-Sun Chang;
    • Pao-Hsien Chu
    Publication type:
    Article
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    Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0080-4
    By:
    • Fokstuen, S.;
    • Makrythanasis, P.;
    • Hammar, E.;
    • Guipponi, M.;
    • Ranza, E.;
    • Varvagiannis, K.;
    • Santoni, F. A.;
    • Albarca-Aguilera, M.;
    • Poleggi, M. E.;
    • Couchepin, F.;
    • Brockmann, C.;
    • Mauron, A.;
    • Hurst, S. A.;
    • Moret, C.;
    • Gehrig, C.;
    • Vannier, A.;
    • Bevillard, J.;
    • Araud, T.;
    • Gimelli, S.;
    • Stathaki, E.
    Publication type:
    Article
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    Three-hour analysis of non-invasive foetal sex determination: application of Plexor chemistry.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0066-2
    By:
    • Pietropolli, Adalgisa;
    • Capogna, Maria Vittoria;
    • Cascella, Raffaella;
    • Germani, Chiara;
    • Bruno, Valentina;
    • Strafella, Claudia;
    • Sarta, Simona;
    • Ticconi, Carlo;
    • Marmo, Giusy;
    • Gallaro, Sara;
    • Longo, Giuliana;
    • Marsella, Luigi Tonino;
    • Novelli, Antonio;
    • Novelli, Giuseppe;
    • Piccione, Emilio;
    • Giardina, Emiliano
    Publication type:
    Article
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    A review of the new HGNC gene family resource.

    Published in:
    Human Genomics, 2016, v. 10, p. 1, doi. 10.1186/s40246-016-0062-6
    By:
    • Gray, Kristian A.;
    • Seal, Ruth L.;
    • Tweedie, Susan;
    • Wright, Mathew W.;
    • Bruford, Elspeth A.
    Publication type:
    Article
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