Works matching IS 03406717 AND DT 2018 AND VI 137 AND IP 2

Results: 7
    1

    Robust identification of mosaic variants in congenital heart disease.

    Published in:
    Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6
    By:
    • Manheimer, Kathryn B.;
    • Richter, Felix;
    • Edelmann, Lisa J.;
    • D'souza, Sunita L.;
    • Shi, Lisong;
    • Shen, Yufeng;
    • Homsy, Jason;
    • Boskovski, Marko T.;
    • Tai, Angela C.;
    • Gorham, Joshua;
    • Yasso, Christopher;
    • Goldmuntz, Elizabeth;
    • Brueckner, Martina;
    • Lifton, Richard P.;
    • Chung, Wendy K.;
    • Seidman, Christine E.;
    • Seidman, J. G.;
    • Gelb, Bruce D.
    Publication type:
    Article
    2

    Genomic structure of the native inhabitants of Peninsular Malaysia and North Borneo suggests complex human population history in Southeast Asia.

    Published in:
    Human Genetics, 2018, v. 137, n. 2, p. 161, doi. 10.1007/s00439-018-1869-0
    By:
    • Yew, Chee-Wei;
    • Lu, Dongsheng;
    • Deng, Lian;
    • Wong, Lai-Ping;
    • Ong, Rick Twee-Hee;
    • Lu, Yan;
    • Wang, Xiaoji;
    • Yunus, Yushimah;
    • Aghakhanian, Farhang;
    • Mokhtar, Siti Shuhada;
    • Hoque, Mohammad Zahirul;
    • Voo, Christopher Lok-Yung;
    • Abdul Rahman, Thuhairah;
    • Bhak, Jong;
    • Phipps, Maude E.;
    • Xu, Shuhua;
    • Teo, Yik-Ying;
    • Kumar, Subbiah Vijay;
    • Hoh, Boon-Peng
    Publication type:
    Article
    3
    4

    Reconstructing the demographic history of the Himalayan and adjoining populations.

    Published in:
    Human Genetics, 2018, v. 137, n. 2, p. 129, doi. 10.1007/s00439-018-1867-2
    By:
    • Tamang, Rakesh;
    • Chaubey, Gyaneshwer;
    • Nandan, Amrita;
    • Govindaraj, Periyasamy;
    • Singh, Vipin Kumar;
    • Rai, Niraj;
    • Mallick, Chandana Basu;
    • Sharma, Vishwas;
    • Sharma, Varun Kumar;
    • Shah, Anish M.;
    • Lalremruata, Albert;
    • Reddy, Alla G.;
    • Rani, Deepa Selvi;
    • Doviah, Pilot;
    • Negi, Neetu;
    • Hadid, Yarin;
    • Pande, Veena;
    • Vishnupriya, Satti;
    • Van Driem, George;
    • Behar, Doron M.
    Publication type:
    Article
    5
    6

    The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.

    Published in:
    Human Genetics, 2018, v. 137, n. 2, p. 111, doi. 10.1007/s00439-017-1862-z
    By:
    • Tranebjærg, Lisbeth;
    • Strenzke, Nicola;
    • Lindholm, Sture;
    • Rendtorff, Nanna D.;
    • Poulsen, Hanne;
    • Khandelia, Himanshu;
    • Kopec, Wojciech;
    • Lyngbye, Troels J. Brünnich;
    • Hamel, Christian;
    • Delettre, Cecile;
    • Bocquet, Beatrice;
    • Bille, Michael;
    • Owen, Hanne H.;
    • Bek, Toke;
    • Jensen, Hanne;
    • Østergaard, Karen;
    • Möller, Claes;
    • Luxon, Linda;
    • Carr, Lucinda;
    • Wilson, Louise
    Publication type:
    Article
    7