Works in Human Genetics, 2016, Vol 135, Issue 3

Results: 8
    1

    A genome-wide association study of pulmonary tuberculosis in Morocco.

    Published in:
    Human Genetics, 2016, v. 135, n. 3, p. 299, doi. 10.1007/s00439-016-1633-2
    By:
    • Grant, A.;
    • Sabri, A.;
    • Abid, A.;
    • Abderrahmani Rhorfi, I.;
    • Benkirane, M.;
    • Souhi, H.;
    • Naji Amrani, H.;
    • Alaoui-Tahiri, K.;
    • Gharbaoui, Y.;
    • Lazrak, F.;
    • Sentissi, I.;
    • Manessouri, M.;
    • Belkheiri, S.;
    • Zaid, S.;
    • Bouraqadi, A.;
    • El Amraoui, N.;
    • Hakam, M.;
    • Belkadi, A.;
    • Orlova, M.;
    • Boland, A.
    Publication type:
    Article
    2

    Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.

    Published in:
    Human Genetics, 2016, v. 135, n. 3, p. 273, doi. 10.1007/s00439-015-1623-9
    By:
    • Mlynarski, Elisabeth;
    • Xie, Michael;
    • Taylor, Deanne;
    • Sheridan, Molly;
    • Guo, Tingwei;
    • Racedo, Silvia;
    • McDonald-McGinn, Donna;
    • Chow, Eva;
    • Vorstman, Jacob;
    • Swillen, Ann;
    • Devriendt, Koen;
    • Breckpot, Jeroen;
    • Digilio, Maria;
    • Marino, Bruno;
    • Dallapiccola, Bruno;
    • Philip, Nicole;
    • Simon, Tony;
    • Roberts, Amy;
    • Piotrowicz, Małgorzata;
    • Bearden, Carrie
    Publication type:
    Article
    3
    4

    Clinical sequencing: is WGS the better WES?

    Published in:
    Human Genetics, 2016, v. 135, n. 3, p. 359, doi. 10.1007/s00439-015-1631-9
    By:
    • Meienberg, Janine;
    • Bruggmann, Rémy;
    • Oexle, Konrad;
    • Matyas, Gabor
    Publication type:
    Article
    5
    6
    7

    Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.

    Published in:
    Human Genetics, 2016, v. 135, n. 3, p. 327, doi. 10.1007/s00439-016-1637-y
    By:
    • Ghazi, Nicola;
    • Abboud, Emad;
    • Nowilaty, Sawsan;
    • Alkuraya, Hisham;
    • Alhommadi, Abdulrahman;
    • Cai, Huimin;
    • Hou, Rui;
    • Deng, Wen-Tao;
    • Boye, Sanford;
    • Almaghamsi, Abdulrahman;
    • Al Saikhan, Fahad;
    • Al-Dhibi, Hassan;
    • Birch, David;
    • Chung, Christopher;
    • Colak, Dilek;
    • LaVail, Matthew;
    • Vollrath, Douglas;
    • Erger, Kirsten;
    • Wang, Wenqiu;
    • Conlon, Thomas
    Publication type:
    Article
    8

    Resolving the ancestry of Austronesian-speaking populations.

    Published in:
    Human Genetics, 2016, v. 135, n. 3, p. 309, doi. 10.1007/s00439-015-1620-z
    By:
    • Soares, Pedro;
    • Trejaut, Jean;
    • Rito, Teresa;
    • Cavadas, Bruno;
    • Hill, Catherine;
    • Eng, Ken;
    • Mormina, Maru;
    • Brandão, Andreia;
    • Fraser, Ross;
    • Wang, Tse-Yi;
    • Loo, Jun-Hun;
    • Snell, Christopher;
    • Ko, Tsang-Ming;
    • Amorim, António;
    • Pala, Maria;
    • Macaulay, Vincent;
    • Bulbeck, David;
    • Wilson, James;
    • Gusmão, Leonor;
    • Pereira, Luísa
    Publication type:
    Article