Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 10

Results: 8

  • Personalised medicine and population health: breast and ovarian cancer.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 769, doi. 10.1007/s00439-018-1944-6
    By:
    • Narod, Steven A.
    Publication type:
    Article

  • Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 847, doi. 10.1007/s00439-018-1943-7
    By:
    • Bonnemaijer, Pieter W. M.;
    • Iglesias, Adriana I.;
    • Nadkarni, Girish N.;
    • Sanyiwa, Anna J.;
    • Hassan, Hassan G.;
    • Cook, Colin;
    • GIGA Study Group;
    • Simcoe, Mark;
    • Taylor, Kent D.;
    • Schurmann, Claudia;
    • Belbin, Gillian M.;
    • Kenny, Eimear E.;
    • Bottinger, Erwin P.;
    • van de Laar, Suzanne;
    • Wiliams, Susan E. I.;
    • Akafo, Stephen K.;
    • Ashaye, Adeyinka O.;
    • Zangwill, Linda M.;
    • Girkin, Christopher A.;
    • Ng, Maggie C. Y.
    Publication type:
    Article

  • De novo unbalanced translocations have a complex history/aetiology.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 817, doi. 10.1007/s00439-018-1941-9
    By:
    • Bonaglia, Maria Clara;
    • Kurtas, Nehir Edibe;
    • Errichiello, Edoardo;
    • Bertuzzo, Sara;
    • Beri, Silvana;
    • Mehrjouy, Mana M.;
    • Provenzano, Aldesia;
    • Vergani, Debora;
    • Pecile, Vanna;
    • Novara, Francesca;
    • Reho, Paolo;
    • Di Giacomo, Marilena Carmela;
    • Discepoli, Giancarlo;
    • Giorda, Roberto;
    • Aldred, Micheala A.;
    • Santos-Rebouças, Cíntia Barros;
    • Goncalves, Andressa Pereira;
    • Abuelo, Diane N.;
    • Giglio, Sabrina;
    • Ricca, Ivana
    Publication type:
    Article

  • Implication of non-coding PAX6 mutations in aniridia.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 831, doi. 10.1007/s00439-018-1940-x
    By:
    • Plaisancié, Julie;
    • Tarilonte, M.;
    • Ramos, P.;
    • Jeanton-Scaramouche, C.;
    • Gaston, V.;
    • Dollfus, H.;
    • Aguilera, D.;
    • Kaplan, J.;
    • Fares-Taie, L.;
    • Blanco-Kelly, F.;
    • Villaverde, C.;
    • Francannet, C.;
    • Goldenberg, A.;
    • Arroyo, I.;
    • Rozet, J. M.;
    • Ayuso, C.;
    • Chassaing, N.;
    • Calvas, P.;
    • Corton, M.
    Publication type:
    Article

  • Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 807, doi. 10.1007/s00439-018-1939-3
    By:
    • Chapman, N. H.;
    • Bernier, R. A.;
    • Webb, S. J.;
    • Munson, J.;
    • Blue, E. M.;
    • Chen, D.-H.;
    • Heigham, E.;
    • Raskind, W. H.;
    • Wijsman, Ellen M.
    Publication type:
    Article

  • Rare loss of function variants in candidate genes and risk of colorectal cancer.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 795, doi. 10.1007/s00439-018-1938-4
    By:
    • Rosenthal, Elisabeth A.;
    • Shirts, Brian H.;
    • Amendola, Laura M.;
    • Horike-Pyne, Martha;
    • Robertson, Peggy D.;
    • Hisama, Fuki M.;
    • Bennett, Robin L.;
    • Dorschner, Michael O.;
    • Nickerson, Deborah A.;
    • Stanaway, Ian B.;
    • Nassir, Rami;
    • Vickers, Kathy T.;
    • Li, Christopher;
    • Grady, William M.;
    • Peters, Ulrike;
    • Jarvik, Gail P.;
    • NHLBI GO Exome Sequencing Project
    Publication type:
    Article

  • Correction to: The study of human Y chromosome variation through ancient DNA.

    Published in:
    2018
    By:
    • Kivisild, Toomas
    Publication type:
    Correction Notice

  • Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy.

    Published in:
    Human Genetics, 2018, v. 137, n. 10, p. 779, doi. 10.1007/s00439-018-1936-6
    By:
    • Han, Shanshan;
    • Liu, Xiliang;
    • Xie, Shanglun;
    • Gao, Meng;
    • Liu, Fei;
    • Yu, Shanshan;
    • Sun, Peng;
    • Wang, Changquan;
    • Archacki, Stephen;
    • Lu, Zhaojing;
    • Hu, Xuebin;
    • Qin, Yayun;
    • Qu, Zhen;
    • Huang, Yuwen;
    • Lv, Yuexia;
    • Tu, Jiayi;
    • Li, Jingzhen;
    • Yimer, Tinsae Assefa;
    • Jiang, Tao;
    • Tang, Zhaohui
    Publication type:
    Article