Works matching IS 03406717 AND DT 2021 AND VI 140 AND IP 9

Results: 11
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    Compensatory epistasis explored by molecular dynamics simulations.

    Published in:
    Human Genetics, 2021, v. 140, n. 9, p. 1329, doi. 10.1007/s00439-021-02307-x
    By:
    • Serrano, Catarina;
    • Teixeira, Carla S. S.;
    • Cooper, David N.;
    • Carneiro, João;
    • Lopes-Marques, Mónica;
    • Stenson, Peter D.;
    • Amorim, António;
    • Prata, Maria J.;
    • Sousa, Sérgio F.;
    • Azevedo, Luísa
    Publication type:
    Article
    3

    Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.

    Published in:
    Human Genetics, 2021, v. 140, n. 9, p. 1367, doi. 10.1007/s00439-021-02313-z
    By:
    • Shen, Qunshan;
    • Martinez, Guillaume;
    • Liu, Hongbin;
    • Beurois, Julie;
    • Wu, Huan;
    • Amiri-Yekta, Amir;
    • Liang, Dan;
    • Kherraf, Zine-Eddine;
    • Bidart, Marie;
    • Cazin, Caroline;
    • Celse, Tristan;
    • Satre, Véronique;
    • Thierry-Mieg, Nicolas;
    • Whitfield, Marjorie;
    • Touré, Aminata;
    • Song, Bing;
    • Lv, Mingrong;
    • Li, Kuokuo;
    • Liu, Chunyu;
    • Tao, Fangbiao
    Publication type:
    Article
    4

    Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus.

    Published in:
    Human Genetics, 2021, v. 140, n. 9, p. 1353, doi. 10.1007/s00439-021-02312-0
    By:
    • Kho, Pik Fang;
    • Mortlock, Sally;
    • Endometrial Cancer Association Consortium;
    • Amant, Frederic;
    • Annibali, Daniela;
    • Ashton, Katie;
    • Attia, John;
    • Auer, Paul L.;
    • Beckmann, Matthias W.;
    • Black, Amanda;
    • Brinton, Louise;
    • Buchanan, Daniel D.;
    • Chanock, Stephen J.;
    • Chen, Chu;
    • Chen, Maxine M.;
    • Cheng, Timothy H. T.;
    • Cook, Linda S.;
    • Crous-Bous, Marta;
    • Czene, Kamila;
    • Vivo, Immaculata
    Publication type:
    Article
    5
    6

    ZNF668 deficiency causes a recognizable disorder of DNA damage repair.

    Published in:
    Human Genetics, 2021, v. 140, n. 9, p. 1395, doi. 10.1007/s00439-021-02321-z
    By:
    • Alsaif, Hessa S.;
    • Al Ali, Hatoon;
    • Faqeih, Eissa;
    • Ramadan, Sahar M.;
    • Barth, Magalie;
    • Colin, Estelle;
    • Prouteau, Clément;
    • Bonneau, Dominique;
    • Ziegler, Alban;
    • Alkuraya, Fowzan S.
    Publication type:
    Article
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    10

    IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.

    Published in:
    Human Genetics, 2021, v. 140, n. 9, p. 1299, doi. 10.1007/s00439-021-02300-4
    By:
    • Cananzi, Mara;
    • Wohler, Elizabeth;
    • Marzollo, Antonio;
    • Colavito, Davide;
    • You, Jing;
    • Jing, Huie;
    • Bresolin, Silvia;
    • Gaio, Paola;
    • Martin, Renan;
    • Mescoli, Claudia;
    • Bade, Sangeeta;
    • Posey, Jennifer E.;
    • Dalle Carbonare, Maurizio;
    • Tung, Wesley;
    • Jhangiani, Shalini N.;
    • Bosa, Luca;
    • Zhang, Yu;
    • Filho, Joselito Sobreira;
    • Gabelli, Maria;
    • Kellermayer, Richard
    Publication type:
    Article
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