학술논문
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'학술논문'
에서 검색결과 171건 | 목록
1~20
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
Diets, Illja J. ; Prescott, Trine ; Champaigne, Neena L. ; Mancini, Grazia M.S. ; Krossnes, Bård ; Frič, Radek ; Kocsis, Kristina ; Jongmans, Marjolijn C.J. ; Kleefstra, Tjitske
In Genetics in Medicine March 2019 21(3):572-579
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
Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solene; Desdouets, Camille; Commet, Severine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Celine; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C.; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Celine; Bjorg Hammer, Trine; Fenger, Christina D.; Macpherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H.; Glass, Ian A.; Ward, Scott; Campeau, Philippe M.; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G.; Lupski, James R.; Barcia, Giulia; Peduto, Cristina; Plante-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogne, Benjamin; Bezieau, Stephane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Ferec, Claude; Kury, Sebastien; Bernard, Delphine G.
Academic Journal
Kleefstra, Tjitske ; Kramer, Jamie M. ; Neveling, Kornelia ; Willemsen, Marjolein H. ; Koemans, Tom S. ; Vissers, Lisenka E.L.M. ; Wissink-Lindhout, Willemijn ; Fenckova, Michaela ; van den Akker, Willem M.R. ; Kasri, Nael Nadif ; Nillesen, Willy M. ; Prescott, Trine ; Clark, Robin D. ; Devriendt, Koenraad ; van Reeuwijk, Jeroen ; de Brouwer, Arjan P.M. ; Gilissen, Christian ; Zhou, Huiqing ; Brunner, Han G. ; Veltman, Joris A. ; Schenck, Annette ; van Bokhoven, Hans
In The American Journal of Human Genetics 13 July 2012 91(1):73-82
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
In European Journal of Medical Genetics 2011 54(2):130-135
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
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.
Academic Journal
Zweier, Christiane ; Thiel, Christian T ; Dufke, Andreas ; Crow, Yanick J ; Meinecke, Peter ; Suri, Mohnish ; Ala-Mello, Sirpa ; Beemer, Frits ; Bernasconi, Sergio ; Bianchi, Paolo ; Bier, Andrea ; Devriendt, Koen ; Dimitrov, Boyan ; Firth, Helen ; Gallagher, Renata C ; Garavelli, Livia ; Gillessen-Kaesbach, Gabriele ; Hudgins, Louanne ; Kääriäinen, Helena ; Karstens, Susan ; Krantz, Ian ; Mannhardt, Anca ; Medne, Livija ; Mücke, Jürgen ; Kibaek, Maria ; Krogh, Lotte Nylandsted ; Peippo, Maarit ; Rittinger, Olaf ; Schulz, Solveig ; L Schelley, Susan ; Temple, I Karen ; Dennis, Nick R ; Van der Knaap, Marjo S ; Wheeler, Patricia ; Yerushalmi, Baruch ; Zenker, Martin ; Seidel, Heide ; Lachmeijer, A ; Prescott, Trine ; Kraus, Cornelia ; Lowry, R Brian ; Rauch, Anita
In European Journal of Medical Genetics 2005 48(2):97-111
Academic Journal
Marbach, Felix ; Rustad, Cecilie F. ; Riess, Angelika ; Đukić, Dejan ; Hsieh, Tzung-Chien ; Jobani, Itamar ; Prescott, Trine ; Bevot, Andrea ; Erger, Florian ; Houge, Gunnar ; Redfors, Maria ; Altmueller, Janine ; Stokowy, Tomasz ; Gilissen, Christian ; Kubisch, Christian ; Scarano, Emanuela ; Mazzanti, Laura ; Fiskerstrand, Torunn ; Krawitz, Peter M. ; Lessel, Davor ; Netzer, Christian
In The American Journal of Human Genetics 4 April 2019 104(4):749-757
Academic Journal
McEntagart, Meriel ; Williamson, Kathleen A. ; Rainger, Jacqueline K. ; Wheeler, Ann ; Seawright, Anne ; De Baere, Elfride ; Verdin, Hannah ; Bergendahl, L. Therese ; Quigley, Alan ; Rainger, Joe ; Dixit, Abhijit ; Sarkar, Ajoy ; López Laso, Eduardo ; Sanchez-Carpintero, Rocio ; Barrio, Jesus ; Bitoun, Pierre ; Prescott, Trine ; Riise, Ruth ; McKee, Shane ; Cook, Jackie ; McKie, Lisa ; Ceulemans, Berten ; Meire, Françoise ; Temple, I. Karen ; Prieur, Fabienne ; Williams, Jonathan ; Clouston, Penny ; Németh, Andrea H. ; Banka, Siddharth ; Bengani, Hemant ; Handley, Mark ; Freyer, Elisabeth ; Ross, Allyson ; van Heyningen, Veronica ; Marsh, Joseph A. ; Elmslie, Frances ; FitzPatrick, David R.
In The American Journal of Human Genetics 5 May 2016 98(5):981-992
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
Hurles, Matthew; FitzPatrick, David R.; Al-Turki, Saeed; Anderson, Carl; Barroso, Inês; Beales, Philip; Bentham, Jamie; Bhattacharya, Shoumo; Carss, Keren; Chatterjee, Krishna; Cirak, Sebhattin; Cosgrove, Catherine; Daly, Allan; Floyd, Jamie; Franklin, Chris; Futema, Marta; Humphries, Steve; McCarthy, Shane; Mitchison, Hannah; Muntoni, Francesco; Onoufriadis, Alexandros; Parker, Victoria; Payne, Felicity; Plagnol, Vincent; Raymond, Lucy; Savage, David; Scambler, Peter; Schmidts, Miriam; Semple, Robert; Serra, Eva; Stalker, Jim; van Kogelenberg, Margriet; Vijayarangakannan, Parthiban; Walter, Klaudia; Wood, Gretta; Rainger, Joe ; Pehlivan, Davut ; Johansson, Stefan ; Bengani, Hemant ; Sanchez-Pulido, Luis ; Williamson, Kathleen A. ; Ture, Mehmet ; Barker, Heather ; Rosendahl, Karen ; Spranger, Jürgen ; Horn, Denise ; Meynert, Alison ; Floyd, James A.B. ; Prescott, Trine ; Anderson, Carl A. ; Rainger, Jacqueline K. ; Karaca, Ender ; Gonzaga-Jauregui, Claudia ; Jhangiani, Shalini ; Muzny, Donna M. ; Seawright, Anne ; Soares, Dinesh C. ; Kharbanda, Mira ; Murday, Victoria ; Finch, Andrew ; Gibbs, Richard A. ; van Heyningen, Veronica ; Taylor, Martin S. ; Yakut, Tahsin ; Knappskog, Per M. ; Hurles, Matthew E. ; Ponting, Chris P. ; Lupski, James R. ; Houge, Gunnar ; FitzPatrick, David R.
In The American Journal of Human Genetics 5 June 2014 94(6):915-923
Academic Journal
Prescott, Trine ; Redfors, Maria ; Rustad, Cecilie Fremstad ; Eiklid, Kristin Louise ; Geirdal, Amy Østertun ; Storhaug, Kari ; Jensen, Janicke Liaaen
In European Journal of Medical Genetics March 2013 56(3):131-137
Academic Journal
Tønne, Elin; Holdhus, Rita; Stansberg, Christine; Stray-Pedersen, Asbjørg; Petersen, Kjell; Brunner, Han G; Gilissen, Christian; Hoischen, Alexander; Prescott, Trine; Steen, Vidar M; Fiskerstrand, Torunn
Academic Journal
Rezwan, Faisal I; Poole, Rebecca L; Prescott, Trine; Walker, Joanna M; Karen Temple, I; Mackay, Deborah JG
Academic Journal
Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; Haeringen, Arie van; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily
Human Molecular Genetics; 12/15/2021, Vol. 30 Issue 24, p2300-2314, 15p
Academic Journal
Munthe-Kaas, Monica C.; Forthun, Rakel B.; Brendehaug, Atle; Eek, Anette K.; Høysæter, Trude; Osnes, Liv T.N.; Prescott, Trine; Spetalen, Signe; Hovland, Randi
Journal of Pediatric Hematology/Oncology; May2021, Vol. 43 Issue 4, pe508-e511, 4p
Academic Journal
Lybæk, Helle; ørstavik, Karen Helene; Prescott, Trine; Hovland, Randi; Breilid, Harald; Stansberg, Christine; Steen, Vidar Martin; Houge, Gunnar
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