Works matching IS 03406717 AND DT 2017 AND VI 136 AND IP 2

Results: 10
    1

    XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 227, doi. 10.1007/s00439-016-1752-9
    By:
    • Sun, Yi-Xi;
    • Zhang, Yi-Xin;
    • Zhang, Dan;
    • Xu, Chen-Ming;
    • Chen, Song-Chang;
    • Zhang, Jun-Yu;
    • Ruan, Ye-Chun;
    • Chen, Feng;
    • Zhang, Run-Ju;
    • Qian, Ye-Qing;
    • Liu, Yi-Feng;
    • Jin, Lu-Yang;
    • Yu, Tian-Tian;
    • Xu, Hai-Yan;
    • Luo, Yu-Qin;
    • Liu, Xin-Mei;
    • Sun, Fei;
    • Sheng, Jian-Zhong;
    • Huang, He-Feng
    Publication type:
    Article
    2
    3

    Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 205, doi. 10.1007/s00439-016-1747-6
    By:
    • Patel, Nisha;
    • Anand, Deepti;
    • Monies, Dorota;
    • Maddirevula, Sateesh;
    • Khan, Arif;
    • Algoufi, Talal;
    • Alowain, Mohammed;
    • Faqeih, Eissa;
    • Alshammari, Muneera;
    • Qudair, Ahmed;
    • Alsharif, Hadeel;
    • Aljubran, Fatimah;
    • Alsaif, Hessa;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alsedairy, Haifa;
    • Aldahmesh, Mohammed;
    • Lachke, Salil;
    • Alkuraya, Fowzan
    Publication type:
    Article
    4
    5

    Mutations in IL36RN are associated with geographic tongue.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 241, doi. 10.1007/s00439-016-1750-y
    By:
    • Liang, Jianying;
    • Huang, Peichen;
    • Li, Huaguo;
    • Zhang, Jia;
    • Ni, Cheng;
    • Wang, Yirong;
    • Shen, Jinwen;
    • Li, Chunxiao;
    • Kang, Lu;
    • Chen, Jie;
    • Zhang, Hui;
    • Wang, Zhen;
    • Zhang, Zhen;
    • Li, Ming;
    • Yao, Zhirong
    Publication type:
    Article
    6

    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 179, doi. 10.1007/s00439-016-1743-x
    By:
    • Bramswig, Nuria;
    • Lüdecke, H.-J.;
    • Pettersson, M.;
    • Albrecht, B.;
    • Bernier, R.;
    • Cremer, K.;
    • Eichler, E.;
    • Falkenstein, D.;
    • Gerdts, J.;
    • Jansen, S.;
    • Kuechler, A.;
    • Kvarnung, M.;
    • Lindstrand, A.;
    • Nilsson, D.;
    • Nordgren, A.;
    • Pfundt, R.;
    • Spruijt, L.;
    • Surowy, H.;
    • Vries, B.;
    • Wieland, T.
    Publication type:
    Article
    7
    8
    9
    10

    Identifying gene-gene interactions that are highly associated with four quantitative lipid traits across multiple cohorts.

    Published in:
    Human Genetics, 2017, v. 136, n. 2, p. 165, doi. 10.1007/s00439-016-1738-7
    By:
    • De, Rishika;
    • Verma, Shefali;
    • Holzinger, Emily;
    • Hall, Molly;
    • Burt, Amber;
    • Carrell, David;
    • Crosslin, David;
    • Jarvik, Gail;
    • Kuivaniemi, Helena;
    • Kullo, Iftikhar;
    • Lange, Leslie;
    • Lanktree, Matthew;
    • Larson, Eric;
    • North, Kari;
    • Reiner, Alex;
    • Tragante, Vinicius;
    • Tromp, Gerard;
    • Wilson, James;
    • Asselbergs, Folkert;
    • Drenos, Fotios
    Publication type:
    Article