학술논문
'학술논문'
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20~30
Academic Journal
Schirwani, Schaida; Woods, Emily; Koolen, David A.; Ockeloen, Charlotte W.; Lynch, Sally Ann; Kavanagh, Karl; Graham, John M., Jr.; Grand, Katheryn; Pierson, Tyler Mark; Chung, Jeffrey M.; Balasubramanian, Meena
Academic Journal
Postma, Julianne K.; Zambonin, Jessica L.; Khouj, Ebtissal; Alyamani, Suad; Graham, John M., Jr.; Alkuraya, Fowzan S.; Kundell, Stephen; Carter, Melissa T.
Aaen, Gregory S.; Abend, Nicholas Scott; Abou-Hamden, Amal; Allen, Jeffrey C.; Amato, Anthony A.; Amlie-Lefond, Catherine; Ashwal, Stephen; Bailey, Russell C.; Bale, James F., Jr.; Banwell, Brenda; Barañano, Kristin W.; Barkovich, A. James; Barohn, Richard J.; Bartels, Ute K.; Bartnik-Olson, Brenda; Barzilai, Ori; Bassuk, Alexander; Bearden, David R.; Ben-Sira, Liat; Bernard, Timothy J.; Berry-Kravis, Elizabeth; Beslow, Lauren A.; Biegel, Jaclyn A.; Billinghurst, Lori; Birnbaum, Angela K.; Blackburn, Joanna S.; Bobowski, Nuala; Boire, Adrienne; Bönnemann, Carsten G.; Bonifacio, Sonia L.; Bonthius, Daniel J.; Borcherding, Breck; Branchford, Brian R.; Brandsema, John; Brennan, Kathryn M.; Brenton, J. Nicholas; Brooks-Kayal, Amy R.; Brown, Lawrence W.; Buchalter, Jeffrey; Camfield, Carol S.; Camfield, Peter R.; Campoy, Cristina; Carpenter, Jessica L.; Chang, Taeun; Chau, Vann; Chi, Susan N.; Chiriboga, Claudia A.; Cho, Yoon-Jae; Christian, Cindy W.; Chrestian, Nicholas; Cilio, Maria Roberta; Clark, Robin D.; Cohen, Bruce H.; Cohn, Ronald D.; Connolly, Anne M.; Constable, Todd; Constantini, Shlomi; Conway, Jeannine M.; Coulter, David L.; Cowan, Tina M.; Dale, Russell C.; Darbro, Benjamin; Darras, Basil T.; Dastgir, Jahannaz; De Meirleir, Linda; De Vivo, Darryl C.; de Vries, Linda S.; Deisch, Jeremy K.; Deltenre, Paul; Desai, Jay; Descartes, Maria; deVeber, Gabrielle; Dhamne, Sameer C.; Diaz, Jullianne; DiMauro, Salvatore; Dobyns, William B.; Doherty, Dan; Donner, Elizabeth J.; Dosenbach, Nico U.F.; Dowling, James J.; Drake, James M.; Ejerskov, Cecile; Engel, Andrew G.; Enns, Gregory M.; Escolano-Margarit, María Victoria; Etzion, Iris; Fatemi, S. Ali; Fehlings, Darcy L.; Feinberg, Michelle Lauren; Ferriero, Donna M.; Filipek, Pauline A.; Finkel, Richard S.; Fisher, Paul G.; Flanigan, Kevin; Foreman, Nicholas K.; Franco, Israel; Frank, Yitzchak; Fredrick, Douglas R.; Freeze, Hudson H.; Fuente-Mora, Cristina; Furman, Joseph M.; Gallagher, Renata C.; Garel, Catherine; Gertsch, Emily; Gilbert, Donald L.; Gilles, Elizabeth E.; Giza, Christopher C.; Glaser, Carol A.; Glass, Hannah C.; Glauser, Tracy; Glykys, Joseph; Goldstein, Amy; Gonorazky, Hernan Dario; Gonzalez, Rodolfo; Goodkin, Howard P.; Graham, John M., Jr.; Greninger, Alexander L.; Gronseth, Gary; Gropman, Andrea L.; Grundy, Richard; Guerrini, Renzo; Gupta, Nalin; Hahn, Jin S.; Hamblin, Milton H.; Hani, Abeer J.; Hanmantgad, Sharyu; Harbert, Mary J.; Harini, Chellamani; Harriott, Andrea M.; Heatwole, Chad; Hershey, Andrew D.; Hirtz, Deborah G.; Holmes, Gregory L.; Holshouser, Barbara A.; Hurwitz, Kathleen A.; Hwang, Eugene; Ichord, Rebecca N.; Jafar-Nejad, Paymaan; Jain, Sejal V.; Jordan, Lori; Kabbouche, Marielle A.; Kacperski, Joanne; Kang, Peter B.; Kariannis, Matthias A.; Kaufmann, Horacio; Kaye, Harper L.; Keating, Robert; Kennedy, Colin R.; Khakoo, Yasmin; Kirton, Adam; Kissel, John T.; Knupp, Kelly G.; Korf, Bruce R.; Kossoff, Eric H.; Kothare, Sanjeev V.; Kupfer, Oren; LaFrance, W. Curt, Jr.; Latal, Beatrice; Leber, Steven M.; Lee, Jean-Pyo; Leppik, Ilo E.; Lerman-Sagie, Tally; Lerner, Jason T.; Leventer, Richard J.; Licht, Daniel J.; Lichter-Konecki, Uta; Lidar, Zvi; Liem, Djin Gie; Loddenkemper, Tobias; Long, Roger K.; Luc, Quyen N.; Mackay, Mark; Majnemer, Annette; Makhani, Naila; Malinger, Gustavo; Mandelbaum, David E.; Maricich, Stephen M.; Maski, Kiran P.; Mathur, Mudit; Matthews, Dennis J.; McMahon, Kelly; DeMara-Hoth, Megan B.; Mendelsohn, Bryce; Mennella, Julie A.; Ment, Laura R.; Mercuri, Eugenio; Michelson, David J.; Mikati, Mohamad A.; Mikhail, Fady M.; Miller, Steven Paul; Milunsky, Jeff M.; Mink, Jonathan W.; Mirzaa, Ghayda M.; Mitchell, Wendy G.; Mohan, Michael A.; Mohassel, Payam; Moharir, Mahendranath; Monani, Umrao R.; Monje Deisseroth, Michelle; Moodley, Manikum; Mower, Andrew; Moxley, Richard T., III; Mueller, Sabine; Muotri, Alysson R.; Nagamani, Sandesh C.S.; Narayanan, Mohan J.; Narayanan, Vinodh; Nass, Ruth D.; Neul, Jeffrey L.; Nevo, Yoram; Ng, Bobby G.; Nickels, Katherine C.; Nimmo, Graeme A.M.; Noetzel, Michael J.; Norcliffe-Kaufmann, Lucy; Nordli, Douglas R., Jr.; Nowak-Göttl, Ulrike; O'Brien, Hope L.; Oleszek, Joyce; Oskoui, Maryam; Paciorkowski, Alex R.; Packer, Roger J.; Packman, Seymour; Palma, Jose-Alberto; Pardo, Andrea C.; Parsons, Julie A.; Partridge, John Colin; Pastores, Gregory M.; Patterson, Marc C.; Pearce, William J.; Pearl, Phillip L.; Penner, Melanie; Percival, Leila; Pereira, Marcia; Pfister, Stefan M.; Phillips, John; Plecko, Barbara; Plioplys, Sigita; Poduri, Annapurna; Poisson, Sharon; Pomeroy, Scott L.; Poretti, Andrea; Powers, Scott W.; Pranzatelli, Michael R.; Przekop, Allison; Rabie, Malcolm; Rangasamy, Sampathkumar; Raymond, Gerald V.; Reddy, Alyssa T.; Rendleman, Rebecca L.; Rho, Jong M.; Rodan, Lance H.; Roddy, Sarah M.; Rogers, Elizabeth E.; Rosenthal, Stephen M.; Rosman, N. Paul; Ross, M. Elizabeth; Rotenberg, Alexander; Rust, Robert S.; Sanchez, Cheryl P.; Sanchez, Pedro; Sánchez Fernández, Iván; Sands, Tristan T.; Sanger, Terence D.; Sannagowdara, Kumar; Scheinost, Dustin; Scher, Mark S.; Schor, Nina F.; Schrauwen, Isabelle; Segal, Michael M.; Seinfeld, Syndi; Selcen, Duygu; Seltzer, Laurie E.; Semrud-Clikeman, Margaret; Shaw, Dennis W.; Shaywitz, Bennett A.; Shaywitz, Sally E.; Shellhaas, Renée A.; Sherr, Elliott H.; Sheth, Rita D.; Shevell, Michael I.; Shinnar, Shlomo; Shofty, Ben; Shu, Stanford K.; Shy, Michael E.; Silveira Moriyama, Laura; Silvestri, Nicholas J.; Sims, Katherine B.; Singer, Harvey S.; Singhal, Nilika Shah; Smith, Craig M.; Smith, Edward; Smith, Stephen A.; Snyder, Evan Y.; Soul, Janet; Spalink, Christy L.; Spencer, Karen A.; Stafstrom, Carl E.; Steinfeld, Robert; Strober, Jonathan B.; Sullivan, Joseph; Swaiman, Kenneth F.; Swoboda, Kathryn J.; Tate, Elizabeth D.; Tatum, William O., IV; Tein, Ingrid; Tekulve, Kristyn; Tenney, Jeffrey R.; Thiele, Elizabeth A.; Thompson-Stone, Robert; Tochen, Laura; Tormoehlen, Laura M.; Tran, Lily; Trauner, Doris A.; Turnacioglu, Sinan O.; Ullrich, Nicole J.; Urion, David K.; Van Camp, Guy; Van Hirtum-Das, Michèle; van Karnebeek, Clara D.M.; Van Maldergem, Lionel; Vanderver, Adeline; Vitanza, Nicholas A.; von Rhein, Michael; von Scheven, Emily; Wagner, Ann; Wainwright, Mark S.; Walker, Melissa A.; Walkup, John T.; Walsh, Laurence; Walters-Sen, Lauren C.; Wang, Raymond Y.; Warner, Thomas T.; Whelan, Harry T.; Weinberg, Geoffrey A.; Wells, Elizabeth M.; Wheless, James W.; Wirrell, Elaine C.; Wisoff, Jeffrey H.; Wolf, Nicole I.; Wolfe, Gil I.; Wright, F. Virginia; Wycliffe, Nathaniel D.; Yang, Michele L.; Yuskaitis, Christopher J.; Zoghbi, Huda Y.; Zupanc, Mary L.
In Swaiman's Pediatric Neurology Edition: Sixth Edition. 2017:xiv-xxvi
Academic Journal
Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernandez-Garcia, Andres; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Jean Cuevas, July K.; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabiola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M.R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B.A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P.A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E.M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M., Jr.; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E.L.M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd, Jr.; Tartaglia, Marco
American Journal of Human Genetics. March 4, 2021, Vol. 108 Issue 3, 502
Academic Journal
Biesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J.M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A.
American Journal of Human Genetics. January 7, 2021, Vol. 108 Issue 1, 8
Academic Journal
In European Journal of Medical Genetics 2009 52(2):123-127
Academic Journal
Yabumoto, Megan; Kianmahd, Jessica; Singh, Meghna; Palafox, Maria F.; Wei, Angela; Elliott, Kathryn; Goodloe, Dana H.; Dean, S. Joy; Gooch, Catherine; Murray, Brianna K.; Swartz, Erin; Vergano, Samantha A. Schrier; Towne, Meghan C.; Nugent, Kimberly; Roeder, Elizabeth R.; Kresge, Christina; Pletcher, Beth A.; Grand, Katheryn; Graham, John M., Jr.; Gates, Ryan; Gomez-Ospina, Natalia; Ramanathan, Subhadra; Clark, Robin Dawn; Glaser, Kimberly; Benke, Paul J.; Cohen, Julie S.; Fatemi, Ali; Mu, Weiyi; Baranano, Kristin W.; Madden, Jill A.; Gubbels, Cynthia S.; Yu, Timothy W.; Agrawal, Pankaj B.; Chambers, Mary-Kathryn; Phornphutkul, Chanika; Pugh, John A.; Tauber, Kate A.; Azova, Svetlana; Smith, Jessica R.; O'Donnell-Luria, Anne; Medsker, Hannah; Srivastava, Siddharth; Krakow, Deborah; Schweitzer, Daniela N.; Arboleda, Valerie A.
Academic Journal
Pirozzi, Filomena; Lee, Benson; Horsley, Nicole; Burkardt, Deepika D.; Dobyns, William B.; Graham, John M., Jr.; Dentici, Maria L.; Cesario, Claudia; Schallner, Jens; Porrmann, Joseph; Di Donato, Nataliya; Sanchez-Lara, Pedro A.; Mirzaa, Ghayda M.
Academic Journal
Schirwani, Schaida; Albaba, Shadi; Carere, Deanna Alexis; Guillen Sacoto, Maria J.; Milan Zamora, Francisca; Si, Yue; Rabin, Rachel; Pappas, John; Renaud, Deborah L.; Hauser, Natalie; Reid, Evan; Blanchet, Patricia; Foulds, Nichola; Dixit, Abhijit; Fisher, Richard; Armstrong, Ruth; Isidor, Bertrand; Cogne, Benjamin; Schrier Vergano, Samantha; Demirdas, Serwet; Dykzeul, Natalie; Cohen, Julie S.; Grand, Katheryn; Morel, Dayna; Slavotinek, Anne; Albassam, Hessa F.; Naik, Swati; Dean, John; Ragge, Nicola; Cinzia, Costa; Tedesco, Maria Giovanna; Harrison, Rachel E.; Bouman, Arjan; Palen, Emily; Challman, Thomas D.; Willemsen, Marjolein H.; Vogt, Julie; Cunniff, Christopher; Bergstrom, Katherine; Walia, Jagdeep S.; Bruel, Ange-Line; Kini, Usha; Alkuraya, Fowzan S.; Slegesky, Valerie; Meeks, Naomi; Girotto, Paula; Johnson, Diana; Newbury-Ecob, Ruth; Ockeloen, Charlotte W.; Prontera, Paolo; Lynch, Sally Ann; Li, Dong; Graham, John M., Jr.; Balasubramanian, Meena; DDD Study
Academic Journal
Douzgou, Sofia; Rawson, Myfanwy; Baselga, Eulalia; Danielpour, Moise; Faivre, Laurence; Kashanian, Alon; Keppler-Noreuil, Kim M.; Kuentz, Paul; Mancini, Grazia M. S.; Maniere, Marie-Cecile; Martinez-Glez, Victor; Parker, Victoria E.; Semple, Robert K.; Srivastava, Siddharth; Vabres, Pierre; De Wit, Marie-Claire Y.; Graham, John M., Jr.; Clayton-Smith, Jill; Mirzaa, Ghayda M.; Biesecker, Leslie G.
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