학술논문
'학술논문'
에서 검색결과 174건 | 목록
1~10
Academic Journal
Langhammer, Franziska; Maroofian, Reza; Badar, Rueda; Gregor, Anne; Rochman, Michelle; Ratliff, Jeffrey B.; Koopmans, Marije; Herget, Theresia; Hempel, Maja; Kortüm, Fanny; Heron, Delphine; Mignot, Cyril; Keren, Boris; Brooks, Susan; Botti, Christina; Ben-Zeev, Bruria; Argilli, Emanuela; Sherr, Elliot H.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Bakhtiari, Somayeh; Kruer, Michael C.; Salih, Mustafa A.; Kuechler, Alma; Muller, Eric A.; Blocker, Karli; Kuismin, Outi; Park, Kristen L.; Kochhar, Aaina; Brown, Kathleen; Ramanathan, Subhadra; Clark, Robin D.; Elgizouli, Magdeldin; Melikishvili, Gia; Tabatadze, Nazhi; Stark, Zornitza; Mirzaa, Ghayda M.; Ong, Jinfon; Grasshoff, Ute; Bevot, Andrea; von Wintzingerode, Lydia; Jamra, Rami A.; Hennig, Yvonne; Goldenberg, Paula; Al Alam, Chadi; Charif, Majida; Boulouiz, Redouane; Bellaoui, Mohammed; Amrani, Rim; Al Mutairi, Fuad; Tamim, Abdullah M.; Abdulwahab, Firdous; Alkuraya, Fowzan S.; Khouj, Ebtissal M.; Alvi, Javeria R.; Sultan, Tipu; Hashemi, Narges; Karimiani, Ehsan G.; Ashrafzadeh, Farah; Imannezhad, Shima; Efthymiou, Stephanie; Houlden, Henry; Sticht, Heinrich; Zweier, Christiane
In Genetics in Medicine August 2023 25(8)
Academic Journal
Shelkowitz, Emily; Stence, Nicholas V.; Neuberger, Ilana; Park, Kristen L.; Saenz, Margarita S.; Pao, Emily; Oyama, Nora; Friedman, Seth D.; Shaw, Dennis W.W.; Mirzaa, Ghayda M.
In Pediatric Neurology June 2023
Academic Journal
Aldinger, Kimberly A.; Timms, Andrew E.; Thomson, Zachary; Mirzaa, Ghayda M.; Bennett, James T.; Rosenberg, Alexander B.; Roco, Charles M.; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi V.; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M.; Alkuraya, Fowzan S.; Biesecker, Leslie G.; Braddock, Stephen R.; Cathey, Sara; Cho, Megan T.; Chung, Brian H.Y.; Everman, David B.; Zarate, Yuri A.; Jones, Julie R.; Schwartz, Charles E.; Goldstein, Amy; Hopkin, Robert J.; Krantz, Ian D.; Ladda, Roger L.; Leppig, Kathleen A.; McGillivray, Barbara C.; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G.; Nickerson, Deborah A.; Bamshad, Michael J.; Gerrelli, Dianne; Lisgo, Steven N.; Seelig, Georg; Ishak, Gisele E.; Barkovich, A. James; Curry, Cynthia J.; Glass, Ian A.; Millen, Kathleen J.; Doherty, Dan; Dobyns, William B.
In The American Journal of Human Genetics 5 September 2019 105(3):606-615
Academic Journal
Davies, Olivia M.T.; Garzon, Maria C.; Frieden, Ilona J.; Cottrell, Catherine E.; Gripp, Karen W.; Saneto, Russell P.; Shwayder, Tor; Mirzaa, Ghayda M.; Drolet, Beth A.
In Journal of the American Academy of Dermatology July 2022 87(1):162-164
Academic Journal
Oyama, Nora; Vaneynde, Pieter; Reynhout, Sara; Pao, Emily M.; Timms, Andrew; Xiao Fan; Foss, Kimberly; Derua, Rita; Janssens, Veerle; Wendy Chung; Mirzaa, Ghayda M.
Journal of Medical Genetics; May2023, Vol. 60 Issue 5, p511-522, 37p
Book
In Swaiman's Pediatric Neurology Edition: Sixth Edition. 2017:e1374-e1382
Book
In Swaiman's Pediatric Neurology Edition: Sixth Edition. 2017:e494-e519
Academic Journal
Advances in Therapy; Sep2022, Vol. 39 Issue 9, p3871-3880, 10p
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.; Clayton‐Smith, Jill; Mirzaa, Ghayda M.; Biesecker, Leslie G.
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
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[AR] Mirzaa, Ghayda M.
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