檢索結果 - Pubudu Samarakoon

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  1. 1
    Identification of copy number variants from exome sequence data

    Identification of copy number variants from exome sequence data 由 Pubudu Samarakoon, Hanne Sørmo Sorte, Bjørn E. Kristiansen, Tove Skodje, Ying Sheng, Geir E. Tjønnfjord, Barbro Stadheim, Asbjørg Stray‐Pedersen, Olaug K. Rødningen, Robert Lyle

    出版 2014
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  2. 2
    A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

    A potential founder variant in<i>CARMIL2/RLTPR</i>in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction 由 Hanne Sørmo Sorte, Liv Osnes, Børre Fevang, Pål Aukrust, Hans Christian Erichsen, Paul Hoff Backe, Tore G. Abrahamsen, Ole Bjørn Kittang, Torstein Øverland, Shalini N. Jhangiani, Donna M. Muzny, Magnus Dehli Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H. Coban Akdemir, Richard A. Gibbs, Olaug K. Rødningen, Robert Lyle, James R. Lupski, Asbjørg Stray‐Pedersen

    出版 2016
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    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders 由 Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug K. Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla M. Davis, Debra Canter, Emily M. Mace, Timothy J. Vece, Carl E. Allen, Harshal Abhyankar, Philip M. Boone, Christine R. Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E. Tjønnfjord, Tobias Gedde‐Dahl, Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski

    出版 2016
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