학술논문
'학술논문'
에서 검색결과 119건 | 목록
1~10
Academic Journal
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Le Quesne Stabej, Polona; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vøllo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
In The American Journal of Human Genetics 2 November 2023 110(11):1919-1937
Academic Journal
Rustad, Cecilie F.; Backe, Paul Hoff; Jin, Chunsheng; Merckoll, Else; Tveten, Kristian; Maciej‐Hulme, Marissa Lucy; Karlsson, Niclas; Prescott, Trine; Sand, Elise Sandås; Woldseth, Berit; Elgstøen, Katja Benedikte Prestø; Holla, Øystein L.
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutation
Academic Journal
Horn, Denise; Prescott, Trine; Houge, Gunnar; Brække, Kristin; Rosendahl, Karen; Nishimura, Gen; FitzPatrick, David R.; Spranger, Jürgen
In European Journal of Medical Genetics August 2015 58(8):387-391
Academic Journal
Sorte, Hanne; Mørkrid, Lars; Rødningen, Olaug; Kulseth, Mari Ann; Stray-Pedersen, Asbjørg; Matthijs, Gert; Race, Valerie; Houge, Gunnar; Fiskerstrand, Torunn; Bjurulf, Bjørn; Lyle, Robert; Prescott, Trine
In European Journal of Medical Genetics March 2012 55(3):196-202
Academic Journal
Mannucci, Ilaria; Dang, Nghi DP; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; Estes, Caroline; Fleischer, Julie; Groepper, Daniel; Haaxma, Charlotte A; Hempel, Maja; Holler-Managan, Yolanda; Houge, Gunnar; Jackson, Adam; Kellogg, Laura; Keren, Boris; Kiraly-Borri, Catherine; Kraus, Cornelia; Kubisch, Christian; Le Guyader, Gwenael; Ljungblad, Ulf W; Brenman, Leslie Manace; Martinez-Agosto, Julian A; Might, Matthew; Miller, David T; Minks, Kelly Q; Moghaddam, Billur; Nava, Caroline; Nelson, Stanley F; Parant, John M; Prescott, Trine; Rajabi, Farrah; Randrianaivo, Hanitra; Reiter, Simone F; Schuurs-Hoeijmakers, Janneke; Shieh, Perry B; Slavotinek, Anne; Smithson, Sarah; Stegmann, Alexander PA; Tomczak, Kinga; Tveten, Kristian; Wang, Jun; Whitlock, Jordan H; Zweier, Christiane; McWalter, Kirsty; Juusola, Jane; Quintero-Rivera, Fabiola; Fischer, Utz; Yeo, Nan Cher; Kreienkamp, Hans-Jürgen; Lessel, Davor
Genome Medicine. 13(1)
Academic Journal
In European Journal of Medical Genetics 2011 54(2):130-135
Academic Journal
Rustad, Cecilie F.; Backe, Paul Hoff; Jin, Chunsheng; Merckoll, Else; Tveten, Kristian; Maciej-Hulme, Marissa Lucy; Karlsson, Niclas; Prescott, Trine; Sand, Elise Sandas; Woldseth, Berit; Elgstoen, Katja Benedikte Presto; Holla, oystein L.
Academic Journal
Prescott, Trine; Devriendt, Koen ; Hamel, Ben; Pasch, Marcel C.; Peeters, Hilde; Vander Poorten, Vincent; Tallerås, Ola
In European Journal of Medical Genetics 2006 49(2):135-139
Academic Journal
Smeland, Marie F.; Brouillard, Pascal; Prescott, Trine; Boon, Laurence M.; Hvingel, Bodil; Nordbakken, Cecilie V.; Nystad, Mona; Holla, Øystein L.; Vikkula, Miikka
Journal of Medical Genetics; Jan2023, Vol. 60 Issue 1, p57-64, 8p
Academic Journal
Nil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.; Undiagnosed Dis Network
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[AR] Prescott, Trine
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