학술논문
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'학술논문'
에서 검색결과 257건 | 목록
1~20
Academic Journal
Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Traeger Synodinos, Joanne; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; L. E. Guyader, Gwenaël; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
European Journal of Human Genetics. 32(8):928-937
Academic Journal
Bogaert, Elke; Garde, Aurore; Gautier, Thierry; Rooney, Kathleen; Duffourd, Yannis; Leblanc, Pontus; van Reempts, Emma; Tran Mau-Them, Frédéric; Wentzensen, Ingrid; Au, Kit Sing; Richardson, Kate; Northrup, Hope; Gatinois, Vincent; Geneviève, David; Louie, Raymond; Lyons, Michael; Laulund, Lone Walentin; Brasch-Andersen, Charlotte; Maxel Juul, Trine; El It, Fatima; Marle, Nathalie; Callier, Patrick; Relator, Raissa; Haghshenas, Sadegheh; Mcconkey, Haley; Kerkhof, Jennifer; Cesario, Claudia; Novelli, Antonio; Brunetti-Pierri, Nicola; Pinelli, Michele; Pennamen, Perrine; Naudion, Sophie; Legendre, Marine; Courdier, Cécile; Trimouille, Aurélien; Doco-Fenzy, Martine; Pais, Lynn; Yeung, Alison; Nugent, Kimberly; Roeder, Elizabeth R.; Mitani, Tadahiro; Posey, Jennifer; Calame, Daniel; Yonath, Hagith; Rosenfeld, Jill; Musante, Luciana; Faletra, Flavio; Montanari, Francesca; Sartor, Giovanna; Vancini, Alessandra; Seri, Marco; Besmond, Claude; Poirier, Karine; Hubert, Laurence; Hemelsoet, Dimitri; Munnich, Arnold; Lupski, James; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence; Sadikovic, Bekim; Govin, Jérôme; Dermaut, Bart; Vitobello, Antonio
Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
Am J Hum Genet.
AMERICAN JOURNAL OF HUMAN GENETICS
Am J Hum Genet.
Academic Journal
Roof, Elizabeth; Deal, Cheri L.; McCandless, Shawn E.; Cowan, Ronald L.; Miller, Jennifer L.; Hamilton, Jill K.; Roeder, Elizabeth R.; McCormack, Shana E.; Lal, Tamanna R. Roshan; Abdul-Latif, Hussein D.; Haqq, Andrea M.; Obrynba, Kathryn S.; Torchen, Laura C.; Vidmar, Alaina P.; Viskochil, David H.; Chanoine, Jean-Pierre; Lam, Carol K.L.; Pierce, Melinda J.; Williams, Laurel L.; Bird, Lynne M.; Butler, Merlin G.; Jensen, Diane E.; Myers, Susan E.; Oatman, Oliver J.; Baskaran, Charumathi; Chalmers, Laura J.; Fu, Cary; Alos, Nathalie; McLean, Scott D.; Shah, Ajay; Whitman, Barbara Y.; Blumenstein, Brent A.; Leonard, Sarah F.; Ernest, Jessica P.; Cormier, Joseph W.; Cotter, Sara P.; Ryman, Davis C.
Journal of Clinical Endocrinology & Metabolism. July, 2023, Vol. 108 Issue 7, p1696, 13 p.
Academic Journal
Serey-Gaut, Margaux ; Cortes, Marisol ; Makrythanasis, Periklis ; Suri, Mohnish ; Taylor, Alexander M.R. ; Sullivan, Jennifer A. ; Asleh, Ayat N. ; Mitra, Jaba ; Dar, Mohamad A. ; McNamara, Amy ; Shashi, Vandana ; Dugan, Sarah ; Song, Xiaofei ; Rosenfeld, Jill A. ; Cabrol, Christelle ; Iwaszkiewicz, Justyna ; Zoete, Vincent ; Pehlivan, Davut ; Akdemir, Zeynep Coban ; Roeder, Elizabeth R. ; Littlejohn, Rebecca Okashah ; Dibra, Harpreet K. ; Byrd, Philip J. ; Stewart, Grant S. ; Geckinli, Bilgen B. ; Posey, Jennifer ; Westman, Rachel ; Jungbluth, Chelsy ; Eason, Jacqueline ; Sachdev, Rani ; Evans, Carey-Anne ; Lemire, Gabrielle ; VanNoy, Grace E. ; O’Donnell-Luria, Anne ; Mau-Them, Frédéric Tran ; Juven, Aurélien ; Piard, Juliette ; Nixon, Cheng Yee ; Zhu, Ying ; Ha, Taekjip ; Buckley, Michael F. ; Thauvin, Christel ; Essien Umanah, George K. ; Van Maldergem, Lionel ; Lupski, James R. ; Roscioli, Tony ; Dawson, Valina L. ; Dawson, Ted M. ; Antonarakis, Stylianos E.
In The American Journal of Human Genetics 2 March 2023 110(3):499-515
Academic Journal
Layo-Carris, Dana E.; Lubin, Emily E.; Sangree, Annabel K.; Clark, Kelly J.; Durham, Emily L.; Gonzalez, Elizabeth M.; Smith, Sarina; Angireddy, Rajesh; Wang, Xiao Min; Weiss, Erin; Toutain, Annick; Mendoza-Londono, Roberto; Dupuis, Lucie; Damseh, Nadirah; Velasco, Danita; Valenzuela, Irene; Codina-Solà, Marta; Ziats, Catherine; Have, Jaclyn; Clarkson, Katie; Steel, Dora; Kurian, Manju; Barwick, Katy; Carrasco, Diana; Dagli, Aditi I.; Nowaczyk, M. J. M.; Hančárová, Miroslava; Bendová, Šárka; Prchalova, Darina; Sedláček, Zdeněk; Baxová, Alica; Nowak, Catherine Bearce; Douglas, Jessica; Chung, Wendy K.; Longo, Nicola; Platzer, Konrad; Klöckner, Chiara; Averdunk, Luisa; Wieczorek, Dagmar; Krey, Ilona; Zweier, Christiane; Reis, Andre; Balci, Tugce; Simon, Marleen; Kroes, Hester Y.; Wiesener, Antje; Vasileiou, Georgia; Marinakis, Nikolaos M.; Veltra, Danai; Sofocleous, Christalena; Kosma, Konstantina; Synodinos, Joanne Traeger; Voudris, Konstantinos A.; Vuillaume, Marie-Laure; Gueguen, Paul; Derive, Nicolas; Colin, Estelle; Battault, Clarisse; Au, Billie; Delatycki, Martin; Wallis, Mathew; Gallacher, Lyndon; Majdoub, Fatma; Smal, Noor; Weckhuysen, Sarah; Schoonjans, An-Sofie; Kooy, R. Frank; Meuwissen, Marije; Cocanougher, Benjamin T.; Taylor, Kathryn; Pizoli, Carolyn E.; McDonald, Marie T.; James, Philip; Roeder, Elizabeth R.; Littlejohn, Rebecca; Borja, Nicholas A.; Thorson, Willa; King, Kristine; Stoeva, Radka; Suerink, Manon; Nibbeling, Esther; Baskin, Stephanie; Guyader, Gwenaël L. E.; Kaplan, Julie; Muss, Candace; Carere, Deanna Alexis; Bhoj, Elizabeth J. K.; Bryant, Laura M.
European Journal of Human Genetics. 32(8):1032-1032
Academic Journal
Spinelli, Egidio; Christensen, Kyle R; Bryant, Emily; Schneider, Amy; GenCouns, M; Rakotomamonjy, Jennifer; Muir, Alison M; Giannelli, Jessica; Littlejohn, Rebecca O; Roeder, Elizabeth R; Schmidt, Berkley; Wilson, William G; Marco, Elysa J; Iwama, Kazuhiro; Kumada, Satoko; Pisano, Tiziana; Barba, Carmen; Vetro, Annalisa; Brilstra, Eva H; van Jaarsveld, Richard H; Matsumoto, Naomichi; Goldberg-Stern, Hadassa; Carney, Patrick; Andrews, P Ian; El Achkar, Christelle M; Berkovic, Sam; Rodan, Lance H; McWalter, Kirsty; Guerrini, Renzo; Scheffer, Ingrid E; Mefford, Heather C; Mandelstam, Simone; Laux, Linda; Millichap, John J; Guemez-Gamboa, Alicia; Nairn, Angus C; Carvill, Gemma L
Paediatrics Publications
Academic Journal
Fanny Mochel; Agnès Rastetter; Berten Ceulemans; Konrad Platzer; Sandra Yang; Deepali N Shinde; Katherine L Helbig; Diego Lopergolo; Francesca Mari; Alessandra Renieri; Elisa Benetti; Roberto Canitano; Quinten Waisfisz; Astrid S Plomp; Sylvia A Huisman; Golder N Wilson; Sara S Cathey; Raymond J Louie; Daniela Del Gaudio; Darrel Waggoner; Shawn Kacker; Kimberly M Nugent; Elizabeth R Roeder; Ange-Line Bruel; Julien Thevenon; Nadja Ehmke; Denise Horn; Manuel Holtgrewe; Frank J Kaiser; Susanne B Kamphausen; Rami Abou Jamra; Sarah Weckhuysen; Carine Dalle; Christel Depienne
Mochel, F, Rastetter, A, Ceulemans, B, Platzer, K, Yang, S, Shinde, D N, Helbig, K L, Lopergolo, D, Mari, F, Renieri, A, Benetti, E, Canitano, R , Waisfisz, Q, Plomp, A S, Huisman, S A, Wilson, G N, Cathey, S S, Louie, R J, Del Gaudio, D, Waggoner, D, Kacker, S, Nugent, K M, Roeder , E R , Bruel, A L, Thevenon, J, Ehmke, N, Horn, D, Holtgrewe, M, Kaiser, F J, Kamphausen, S B, Abou Jamra, R , Weckhuysen, S, Dalle, C & Depienne, C 2020, 'Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders', Brain, vol. 143, no. 12, pp. 3564-3573. https://doi.org/10.1093/brain/awaa346
Academic Journal
Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina ; Martinez, Ariel F. ; Paperna, Tamar ; Cohen, Lior ; Smeland, Marie F. ; Whalen, Sandra ; Heide, Solveig ; Keren, Boris ; Terhal, Pauline ; Irving, Melita ; Takaku, Motoki ; Roberts, John D. ; Petrovich, Robert M. ; Schrier Vergano, Samantha A. ; Kenney, Amy ; Hove, Hanne ; DeChene, Elizabeth ; Quinonez, Shane C. ; Colin, Estelle ; Ziegler, Alban ; Rumple, Melissa ; Jain, Mahim ; Monteil, Danielle ; Roeder, Elizabeth R. ; Nugent, Kimberly ; van Haeringen, Arie ; Gambello, Michael ; Santani, Avni ; Medne, Līvija ; Krock, Bryan ; Skraban, Cara M. ; Zackai, Elaine H. ; Dubbs, Holly A. ; Smol, Thomas ; Ghoumid, Jamal ; Parker, Michael J. ; Wright, Michael ; Turnpenny, Peter ; Clayton-Smith, Jill ; Metcalfe, Kay ; Kurumizaka, Hitoshi ; Gelb, Bruce D. ; Baris Feldman, Hagit ; Campeau, Philippe M. ; Muenke, Maximilian ; Wade, Paul A. ; Lachlan, Katherine
In Genetics in Medicine February 2020 22(2):389-397
Academic Journal
Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F. Palafox; Angela Wei; Kathryn Elliott; Dana H. Goodloe; S. Joy Dean; Catherine Gooch; Brianna K. Murray; Erin Swartz; Samantha A. Schrier Vergano; Meghan C. Towne; Kimberly Nugent; Elizabeth R. Roeder; Christina Kresge; Beth A. Pletcher; Katheryn Grand; John M. Graham Jr.; Ryan Gates; Natalia Gomez‐Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J. Benke; Julie S. Cohen; Ali Fatemi; Weiyi Mu; Kristin W. Baranano; Jill A. Madden; Cynthia S. Gubbels; Timothy W. Yu; Pankaj B. Agrawal; Mary‐Kathryn Chambers; Chanika Phornphutkul; John A. Pugh; Kate A. Tauber; Svetlana Azova; Jessica R. Smith; Anne O’Donnell‐Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N. Schweitzer; Valerie A. Arboleda
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Academic Journal
Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A. ; Pagnamenta, Alistair T. ; Alswaid, Abdulrahman ; Baker, Eva H. ; Blair, Edward ; Borck, Guntram ; Brinkmann, Julia ; Craigen, William ; Dung, Vu Chi ; Emrick, Lisa ; Everman, David B. ; van Gassen, Koen L. ; Gulsuner, Suleyman ; Harr, Margaret H. ; Jain, Mahim ; Kuechler, Alma ; Leppig, Kathleen A. ; McDonald-McGinn, Donna M. ; Can, Ngoc Thi Bich ; Peleg, Amir ; Roeder, Elizabeth R. ; Rogers, R.Curtis ; Sagi-Dain, Lena ; Sapp, Julie C. ; Schäffer, Alejandro A. ; Schanze, Denny ; Stewart, Helen ; Taylor, Jenny C. ; Verbeek, Nienke E. ; Walkiewicz, Magdalena A. ; Zackai, Elaine H. ; Zweier, Christiane ; Zenker, Martin ; Lee, Brendan ; Biesecker, Leslie G.
In Genetics in Medicine October 2018 20(10):1175-1185
Academic Journal
Roessler, Erich; Du, Yang-Zhu; Mullor, Jose L.; Casas, Esther; Allen, William P.; Gillessen-Kaesbach, Gabriele; Roeder, Elizabeth R.; Ming, Jeffrey E.; Muenke, Maximilian
Proceedings of the National Academy of Sciences of the United States of America, 2003 Nov 01. 100(23), 13424-13429.
Academic Journal
Smith, Annabel L.; Hodkinson, Trevor R.; Villellas, Jesus; Catford, Jane A.; Csergő, Anna Mariá; Blomberg, Simone P.; Crone, Elizabeth E.; Ehrlén, Johan; Garcia, Maria B.; Laine, Anna-Liisa; Roach, Deborah A.; Salguero-Gómez, Roberto; Wardle, Glenda M.; Childs, Dylan Z.; Elderd, Bret D.; Finn, Alain; Munné-Bosch, Sergi; Baudraz, Maude E. A.; Bódis, Judit; Brearley, Francis Q.; Bucharova, Anna; Caruso, Christina M.; Duncan, Richard P.; Dwyer, John M.; Gooden, Ben; Groenteman, Ronny; Hamre, Liv Norunn; Helm, Aveliina; Kelly, Ruth; Laanisto, Lauri; Lonati, Michele; Moore, Joslin L.; Morales, Melanie; Olsen, Siri Lie; Pärtel, Meelis; Petry, William K.; Ramula, Satu; Rasmussen, Pil U.; Enri, Simone Ravetto; Roeder, Anna; Roscher, Christiane; Saastamoinen, Marjo; Tack, Ayco J. M.; Töpper, Joachim Paul; Vose, Gregory E.; Wandrag, Elizabeth M.; Wingler, Astrid; Buckley, Yvonne M.
Proceedings of the National Academy of Sciences of the United States of America, 2020 Feb . 117(8), 4218-4227.
Academic Journal
Yan, Kezhi ; Rousseau, Justine ; Littlejohn, Rebecca Okashah ; Kiss, Courtney ; Lehman, Anna ; Rosenfeld, Jill A. ; Stumpel, Constance T.R. ; Stegmann, Alexander P.A. ; Robak, Laurie ; Scaglia, Fernando ; Nguyen, Thi Tuyet Mai ; Fu, He ; Ajeawung, Norbert F. ; Camurri, Maria Vittoria ; Li, Lin ; Gardham, Alice ; Panis, Bianca ; Almannai, Mohammed ; Sacoto, Maria J. Guillen ; Baskin, Berivan ; Ruivenkamp, Claudia ; Xia, Fan ; Bi, Weimin ; Cho, Megan T. ; Potjer, Thomas P. ; Santen, Gijs W.E. ; Parker, Michael J. ; Canham, Natalie ; McKinnon, Margaret ; Potocki, Lorraine ; MacKenzie, Jennifer J. ; Roeder, Elizabeth R. ; Campeau, Philippe M. ; Yang, Xiang-Jiao
In The American Journal of Human Genetics 5 January 2017 100(1):91-104
Academic Journal
Tomasz Gambin; Bo Yuan; Weimin Bi; Pengfei Liu; Jill A. Rosenfeld; Zeynep Coban-Akdemir; Amber N. Pursley; Sandesh C. S. Nagamani; Ronit Marom; Sailaja Golla; Lauren Dengle; Heather G. Petrie; Reuben Matalon; Lisa Emrick; Monica B. Proud; Diane Treadwell-Deering; Hsiao-Tuan Chao; Hannele Koillinen; Chester Brown; Nora Urraca; Roya Mostafavi; Saunder Bernes; Elizabeth R. Roeder; Kimberly M. Nugent; Patricia I. Bader; Gary Bellus; Michael Cummings; Hope Northrup; Myla Ashfaq; Rachel Westman; Robert Wildin; Anita E. Beck; LaDonna Immken; Lindsay Elton; Shaun Varghese; Edward Buchanan; Laurence Faivre; Mathilde Lefebvre; Christian P. Schaaf; Magdalena Walkiewicz; Yaping Yang; Sung-Hae L. Kang; Seema R. Lalani; Carlos A. Bacino; Arthur L. Beaudet; Amy M. Breman; Janice L. Smith; Sau Wai Cheung; James R. Lupski; Ankita Patel; Chad A. Shaw; Paweł Stankiewicz
Genome Medicine, Vol 9, Iss 1, Pp 1-15 (2017)
Academic Journal
Concepcion Gil-Rodriguez, Maria; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernandez-Marcos, Maria; Esperanza Teresa-Rodrigo, Maria; Marcos-Alcalde, Inigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K.; Braunholz, Diana; Bueno-Martinez, Ines; Clark, Dinah; Cooper, Nicola S.; Curry, Cynthia J.; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J.; Kaur, Maninder; Keating, Brendan J.; Kibaek, Maria; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D.; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R.; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D.; Pie, Angeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H.; So, Joyce; Wusik, Katherine A.; Wilson, Louise; Zhang, Jianguo; Gomez-Puertas, Paulino; Casale, Cesar H.; Stroem, Lena; Selicorni, Angelo; Ramos, Feliciano J.; Jackson, Laird G.; Krantz, Ian D.; Das, Soma; Hennekam, Raoul C. M.; Kaiser, Frank J.; FitzPatrick, David R.; Pie, Juan
Human Mutation. 36(4):454-462
Academic Journal
Szafranski, Przemyslaw; Gambin, Tomasz; Dharmadhikari, Avinash V.; Akdemir, Kadir Caner; Jhangiani, Shalini N.; Schuette, Jennifer; Godiwala, Nihal; Yatsenko, Svetlana A.; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Surti, Urvashi; Abellar, Rosanna G.; Bateman, David A.; Wilson, Ashley L.; Markham, Melinda H.; Slamon, Jill; Santos-Simarro, Fernando; Palomares, María; Nevado, Julián; Lapunzina, Pablo; Chung, Brian Hon-Yin; Wong, Wai-Lap; Chu, Yoyo Wing Yiu; Mok, Gary Tsz Kin; Kerem, Eitan; Reiter, Joel; Ambalavanan, Namasivayam; Anderson, Scott A.; Kelly, David R.; Shieh, Joseph; Rosenthal, Taryn C.; Scheible, Kristin; Steiner, Laurie; Iqbal, M. Anwar; McKinnon, Margaret L.; Hamilton, Sara Jane; Schlade-Bartusiak, Kamilla; English, Dawn; Hendson, Glenda; Roeder, Elizabeth R.; DeNapoli, Thomas S.; Littlejohn, Rebecca Okashah; Wolff, Daynna J.; Wagner, Carol L.; Yeung, Alison; Francis, David; Fiorino, Elizabeth K.; Edelman, Morris; Fox, Joyce; Hayes, Denise A.; Janssens, Sandra; De Baere, Elfride; Menten, Björn; Loccufier, Anne; Vanwalleghem, Lieve; Moerman, Philippe; Sznajer, Yves; Lay, Amy S.; Kussmann, Jennifer L.; Chawla, Jasneek; Payton, Diane J.; Phillips, Gael E.; Brosens, Erwin; Tibboel, Dick; de Klein, Annelies; Maystadt, Isabelle; Fisher, Richard; Sebire, Neil; Male, Alison; Chopra, Maya; Pinner, Jason; Malcolm, Girvan; Peters, Gregory; Arbuckle, Susan; Lees, Melissa; Mead, Zoe; Quarrell, Oliver; Sayers, Richard; Owens, Martina; Shaw-Smith, Charles; Lioy, Janet; McKay, Eileen; de Leeuw, Nicole; Feenstra, Ilse; Spruijt, Liesbeth; Elmslie, Frances; Thiruchelvam, Timothy; Bacino, Carlos A.; Langston, Claire; Lupski, James R.; Sen, Partha; Popek, Edwina; Stankiewicz, Paweł
Human Genetics. May 2016 135(5):569-586
Academic Journal
Mochel, Fanny; Rastetter, Agnès; Ceulemans, Berten; Platzer, Konrad; Yang, Sandra; Shinde, Deepali N.; Helbig, Katherine L.; Lopergolo, Diego; Mari, Francesca; Renieri, Alessandra; Benetti, Elisa; Canitano, Roberto; Waisfisz, Quinten; Plomp, Astrid S.; Huisman, Sylvia A.; Wilson, Golder N.; Cathey, Sara S; Louie, Raymond J.; Del Gaudio, Daniela; Waggoner, Darrel; Kacker, Shawn; Nugent, Kimberly M.; Roeder, Elizabeth R.; Bruel, Ange-Line; Thevenon, Julien; Ehmke, Nadja; Abou Jamra, Rami; Weckhuysen, Sarah; Dalle, Carine; Depienne, Christel
Brain
Academic Journal
Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm
Nature Genetics. October, 2017, Vol. 49 Issue 10, p1529, 10 p.
Academic Journal
Anney, Richard; Klei, Lambertus; Pinto, Dalila; Almeida, Joana; Bacchelli, Elena; Baird, Gillian; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Casey, Jillian; Conroy, Judith; Correia, Catarina; Corsello, Christina; Crawford, Emily L; de Jonge, Maretha; Delorme, Richard; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Gilbert, John; Gillberg, Christopher, 1950; Glessner, Joseph T; Green, Andrew; Green, Jonathan; Guter, Stephen J; Heron, Elizabeth A; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Jacob, Suma; Kenny, Graham P; Kim, Cecilia; Kolevzon, Alexander; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Law-Smith, Miriam; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Liu, Xiao-Qing; Lombard, Frances; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Magalhaes, Tiago R; Mantoulan, Carine; McDougle, Christopher J; Melhem, Nadine M; Merikangas, Alison; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Noakes, Carolyn; Nygren, Gudrun, 1957; Papanikolaou, Katerina; Pagnamenta, Alistair T; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Posey, David J; Poustka, Fritz; Ragoussis, Jiannis; Regan, Regina; Renshaw, Katy; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Schlitt, Sabine; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Sykes, Nuala; Tancredi, Raffaella; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Vorstman, Jas; Volkmar, Fred; Wallace, Simon; Wing, Kirsty; Wood, Shawn; Wittemeyer, Kerstin; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Bailey, Anthony J; Battaglia, Agatino; Cantor, Rita M; Coon, Hilary; Cuccaro, Michael L; Dawson, Geraldine; Ennis, Sean; Freitag, Christine M; Geschwind, Daniel H; Haines, Jonathan L; Klauck, Sabine M; McMahon, William M; Maestrini, Elena; Miller, Judith; Monaco, Anthony P; Nelson, Stanley F; Nurnberger, John I; Oliveira, Guiomar; Parr, Jeremy R; Pericak-Vance, Margaret A; Piven, Joseph; Schellenberg, Gerard D; Scherer, Stephen W; Vicente, Astrid M; Wassink, Thomas H; Wijsman, Ellen M; Betancur, Catalina; Buxbaum, Joseph D; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Hallmayer, Joachim; Paterson, Andrew D; Sutcliffe, James S; Szatmari, Peter; Vieland, Veronica J; Hakonarson, Hakon; Devlin, Bernie
Human Molecular Genetics. 21(21):4781-92
Academic Journal
Anney, Richard; Klei, Lambertus; Pinto, Dalila; Regan, Regina; Conroy, Judith; Magalhaes, Tiago R; Correia, Catarina; Abrahams, Brett S; Sykes, Nuala; Pagnamenta, Alistair T; Almeida, Joana; Bacchelli, Elena; Bailey, Anthony J; Baird, Gillian; Battaglia, Agatino; Berney, Tom; Bolshakova, Nadia; Bölte, Sven; Bolton, Patrick F.; Bourgeron, Thomas; Brennan, Sean; Brian, Jessica; Carson, Andrew R; Casallo, Guillermo; Casey, Jillian; Chu, Su H; Cochrane, Lynne; Corsello, Christina; Crawford, Emily L; Crossett, Andrew; Dawson, Geraldine; de Jonge, Maretha; Delorme, Richard; Drmic, Irene; Duketis, Eftichia; Duque, Frederico; Estes, Annette; Farrar, Penny; Fernandez, Bridget A; Folstein, Susan E; Fombonne, Eric; Freitag, Christine M; Gilbert, John; Gillberg, Christopher, 1950; Glessner, Joseph T; Goldberg, Jeremy; Green, Jonathan; Guter, Stephen J; Hakonarson, Hakon; Heron, Elizabeth A; Hill, Matthew; Holt, Richard; Howe, Jennifer L; Hughes, Gillian; Hus, Vanessa; Igliozzi, Roberta; Kim, Cecilia; Klauck, Sabine M; Kolevzon, Alexander; Korvatska, Olena; Kustanovich, Vlad; Lajonchere, Clara M; Lamb, Janine A; Laskawiec, Magdalena; Leboyer, Marion; Le Couteur, Ann; Leventhal, Bennett L; Lionel, Anath C; Liu, Xiao-Qing; Lord, Catherine; Lotspeich, Linda; Lund, Sabata C; Maestrini, Elena; Mahoney, William; Mantoulan, Carine; Marshall, Christian R; McConachie, Helen; McDougle, Christopher J; McGrath, Jane; McMahon, William M; Melhem, Nadine M; Merikangas, Alison; Migita, Ohsuke; Minshew, Nancy J; Mirza, Ghazala K; Munson, Jeff; Nelson, Stanley F; Noakes, Carolyn; Noor, Abdul; Nygren, Gudrun, 1957; Oliveira, Guiomar; Papanikolaou, Katerina; Parr, Jeremy R; Parrini, Barbara; Paton, Tara; Pickles, Andrew; Piven, Joseph; Posey, David J; Poustka, Annemarie; Poustka, Fritz; Prasad, Aparna; Ragoussis, Jiannis; Renshaw, Katy; Rickaby, Jessica; Roberts, Wendy; Roeder, Kathryn; Roge, Bernadette; Rutter, Michael L; Bierut, Laura J; Rice, John P; Salt, Jeff; Sansom, Katherine; Sato, Daisuke; Segurado, Ricardo; Senman, Lili; Shah, Naisha; Sheffield, Val C; Soorya, Latha; Sousa, Inês; Stoppioni, Vera; Strawbridge, Christina; Tancredi, Raffaella; Tansey, Katherine; Thiruvahindrapduram, Bhooma; Thompson, Ann P; Thomson, Susanne; Tryfon, Ana; Tsiantis, John; Van Engeland, Herman; Vincent, John B; Volkmar, Fred; Wallace, Simon; Wang, Kai; Wang, Zhouzhi; Wassink, Thomas H; Wing, Kirsty; Wittemeyer, Kerstin; Wood, Shawn; Yaspan, Brian L; Zurawiecki, Danielle; Zwaigenbaum, Lonnie; Betancur, Catalina; Buxbaum, Joseph D; Cantor, Rita M; Cook, Edwin H; Coon, Hilary; Cuccaro, Michael L; Gallagher, Louise; Geschwind, Daniel H; Gill, Michael; Haines, Jonathan L; Miller, Judith; Monaco, Anthony P; Nurnberger, John I; Paterson, Andrew D; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Scherer, Stephen W; Sutcliffe, James S; Szatmari, Peter; Vicente, Astrid M; Vieland, Veronica J; Wijsman, Ellen M; Devlin, Bernie; Ennis, Sean; Hallmayer, Joachim
Human Molecular Genetics. 19(20):4072-4082
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[검색어] Roeder, Elizabeth R.
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