A surrealistic mega-analysis of redisorganization theories

Por Oxman, Andrew D, Sackett, David L, Chalmers, Iain, Prescott, Trine E
Publicado em 2005

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Por Stray-Pedersen, Asbjørg, Cobben, Jan-Maarten, Prescott, Trine E., Lee, Sora, Cang, Chunlei, Aranda, Kimberly, Ahmed, Sohnee, Alders, Marielle, Gerstner, Thorsten, Aslaksen, Kathinka, Tétreault, Martine, Qin, Wen, Hartley, Taila, Jhangiani, Shalini N., Muzny, Donna M., Tarailo-Graovac, Maja, van Karnebeek, Clara D.M., Lupski, James R., Ren, Dejian, Yoon, Grace
Publicado no Am J Hum Genet (2016)

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Por Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.
Publicado no PLoS One (2016)

Primary immunodeficiency diseases – genomic approaches delineate heterogeneous Mendelian disorders

Por Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K., Akdemir, Zeynep H. Coban, Erichsen, Hans Christian, Forbes, Lisa R., Gu, Shen, Yuan, Bo, Jhangiani, Shalini N., Muzny, Donna M., Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K., Noroski, Lenora M., Seeborg, Filiz O., Davis, Carla, Canter, Debra, Mace, Emily M., Vece, Tim, Allen, Carl E., Abhyankar, Harshal A., Boone, Phil, Beck, Christine R., Wiszniewski, Wojciech Krysztof, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F., Abrahamsen, Tore G., Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv T., Kulseth, Mari Ann, Prescott, Trine E., Rustad, Cecilie F., Heimdal, Ketil R., Belmont, John W., Rider, Nicholas, Chinen, Javier, Cao, Tram, Smith, Eric, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J. Espinosa, Guerrero, Denisse, Pedroza, Luis Alberto, Poli, Cecilia M., Franco, Jose L., Vargas, Claudia M. Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B., Issekutz, Andrew C., Abbott, Jordan, Caldwell, Jason W., Bayer, Diana K., Chan, Alice Y., Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gozde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K., Ehlayel, Mohammad S., Jolles, Stephen, Flatø, Berit, Bertuch, Alison A., Hanson, I. Celine, Zhang, Victor W., Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine, Boerwinkle, Eric, Gibbs, Richard A., Shearer, William T., Lyle, Robert, Orange, Jordan S., Lupski, James R.
Publicado no J Allergy Clin Immunol (2016)