학술논문
'학술논문'
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1~10
Academic Journal
Academic Journal
Ambrose, J.C.; Arumugam, P.; Bevers, R.; Bleda, M.; Boardman-Pretty, F.; Boustred, C.R.; Brittain, H.; Brown, M.A.; Caulfield, M.J.; Chan, G.C.; Giess, A.; Griffin, J.N.; Hamblin, A.; Henderson, S.; Hubbard, T.J.P.; Jackson, R.; Jones, L.J.; Kasperaviciute, D.; Kayikci, M.; Kousathanas, A.; Lahnstein, L.; Lakey, A.; Leigh, S.E.A.; Leong, I.U.S.; Lopez, F.J.; Maleady-Crowe, F.; McEntagart, M.; Minneci, F.; Mitchell, J.; Moutsianas, L.; Mueller, M.; Murugaesu, N.; Need, A.C.; O‘Donovan, P.; Odhams, C.A.; Patch, C.; Perez-Gil, D.; Pereira, M.B.; Pullinger, J.; Rahim, T.; Rendon, A.; Rogers, T.; Savage, K.; Sawant, K.; Scott, R.H.; Siddiq, A.; Sieghart, A.; Smith, S.C.; Sosinsky, A.; Stuckey, A.; Tanguy, M.; Taylor Tavares, A.L.; Thomas, E.R.A.; Thompson, S.R.; Tucci, A.; Welland, M.J.; Williams, E.; Witkowska, K.; Wood, S.M.; Zarowiecki, M.; Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Delgado, Margaret; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fu, Jiayu; Gahl, William A.; Glass, Ian; Goddard, Page C.; Godfrey, Rena A.; Grajewski, Alana; Halley, Meghan C.; Hamid, Rizwan; Hanchard, Neal; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yan; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Kaitryn, Emerald; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Might, Matthew; Miller, Danny; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Morimoto, Marie; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Papp, Jeanette C.; Parker, Neil H.; Petcharet, Leoyklang; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenthal, Elizabeth; Rossignol, Francis; Ruzhnikov, Maura; Sabaii, Marla; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Seto, Elaine; Sharma, Prashant; Shashi, Vandana; Shelkowitz, Emily; Sheppeard, Sam; Shin, Jimann; Silverman, Edwin; Sinsheimer, Janet; Sisco, Kathy; Smith, Edward; Smith, Kevin; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca; Stergachis, Andrew; Stoler, Joan; Sullivan, Kathleen; Sullivan, Jennifer; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz, Monika; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Yamamoto, Shinya; Zhang, Zhe; Zuchner, Stephan; Niggl, Eva; Bouman, Arjan; Hoogenboezem, Remco M.; Wallaard, Ilse; Park, Joohyun; Admard, Jakob; Wilke, Martina; Harris-Mostert, Emilio D.R.O.; Elgersma, Minetta; Bain, Jennifer; Balasubramanian, Meena; Banka, Siddharth; Benke, Paul J.; Bertrand, Miriam; Blesson, Alyssa E.; Clayton-Smith, Jill; Ellingford, Jamie M.; Gillentine, Madelyn A.; Goodloe, Dana H.; Haack, Tobias B.; Jain, Mahim; Krantz, Ian; Luu, Sharon M.; McPheron, Molly; Muss, Candace L.; Raible, Sarah E.; Robin, Nathaniel H.; Spiller, Michael; Starling, Susan; Thiffault, Isabelle; Vetrini, Francesco; Witt, Dennis; Woods, Emily; Zhou, Dihong; Elgersma, Ype; van Esbroeck, Annelot C.M.
In The American Journal of Human Genetics 3 August 2023 110(8):1414-1435
Academic Journal
Lee, Brendan; Sutton, V. Reid; Nagamani, Sandesh C.S.; Glorieux, Francis; Lee, Janice; Esposito, Paul; Wallace, Maegen; Bober, Michael; Eyre, David; Gomez, Danielle; Harris, Gerald; Hart, Tracy; Jain, Mahim; Krakow, Deborah; Krischer, Jeffrey; Orwoll, Eric; Nicol, Lindsey; Raggio, Cathleen; Smith, Peter; Tosi, Laura; Taqi, Doaa; Moussa, Hanan; Schwinghamer, Timothy; Ducret, Maxime; Dagdeviren, Didem; Retrouvey, Jean-Marc; Rauch, Frank; Tamimi, Faleh
In Bone June 2021 147
Academic Journal
Bober, Michael; Esposito, Paul; Eyre, David R.; Gomez, Danielle; Harris, Gerald; Hart, Tracy; Jain, Mahim; Krisher, Jeffrey; Nagamani, Sandesh CS.; Orwoll, Eric S.; Raggio, Cathleen L.; Rush, Eric; Smith, Peter; Tosi, Laura; Rauch, Frank; Retrouvey, Jean-Marc; Taqi, Doaa; Tamimi, Faleh; Dagdeviren, Didem; Glorieux, Francis H.; Lee, Brendan; Hazboun, Renna; Krakow, Deborah; Sutton, V. Reid
In European Journal of Medical Genetics December 2019 62(12)
Academic Journal
Marulanda, Juliana; Retrouvey, Jean‐Marc; Lee, Brendan; Sutton, V. Reid; Nagamani, Sandesh C. S.; Rauch, Frank; Glorieux, Francis; Lee, Janice; Esposito, Paul; Wallace, Maegen; Bober, Michael; Eyre, David; Gomez, Danielle; Harris, Gerald; Hart, Tracy; Jain, Mahim; Krakow, Deborah; Krischer, Jeffrey; Orwoll, Eric; Nicol, Lindsey
Orthodontics & Craniofacial Research; Apr2024, Vol. 27 Issue 2, p237-243, 7p
Academic Journal
Cold Spring Harbor Molecular Case Studies; Dec2023, Vol. 9 Issue 4, p1-10, 10p
Academic Journal
Jain, Mahim; Pinto, Lionel; Thakker, Kamlesh; Shah, Mehul; Rava, Andrew; Ndiba-Markey, Colette; Cork, David
In Molecular Genetics and Metabolism March 2023 138(3)
Academic Journal
Ng, Bobby G; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A; Barone, Rita; Botto, Lorenzo D; Burton, Jennifer E; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S; Coman, David; Dipple, Katrina M; Dorrani, Naghmeh; Dobyns, William B; Elias, Abdallah F; Epstein, Leon; Gahl, William A; Garozzo, Domenico; Hammer, Trine Bjørg; Haven, Jaclyn; Héron, Delphine; Herzog, Matthew; Hoganson, George E; Hunter, Jesse M; Jain, Mahim; Juusola, Jane; Lakhani, Shenela; Lee, Hane; Lee, Joy; Lewis, Katherine; Longo, Nicola; Lourenço, Charles Marques; Mak, Christopher CY; McKnight, Dianalee; Mendelsohn, Bryce A; Mignot, Cyril; Mirzaa, Ghayda; Mitchell, Wendy; Muhle, Hiltrud; Nelson, Stanley F; Olczak, Mariusz; Palmer, Christina GS; Partikian, Arthur; Patterson, Marc C; Pierson, Tyler M; Quinonez, Shane C; Regan, Brigid M; Ross, M Elizabeth; Sacoto, Maria J Guillen; Scaglia, Fernando; Scheffer, Ingrid E; Segal, Devorah; Singhal, Nilika Shah; Striano, Pasquale; Sturiale, Luisa; Symonds, Joseph D; Tang, Sha; Vilain, Eric; Willis, Mary; Wolfe, Lynne A; Yang, Hui; Yano, Shoji; Powis, Zöe; Suchy, Sharon F; Rosenfeld, Jill A; Edmondson, Andrew C; Grunewald, Stephanie; Freeze, Hudson H
Human Mutation. 40(7)
Academic Journal
Burrage, Lindsay C; Reynolds, John J; Baratang, Nissan Vida; Phillips, Jennifer B; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R; Christiansen, Audrey E; Lanza, Denise G; Seavitt, John R; Jain, Mahim; Li, Xiaohui; Parry, David A; Raman, Vandana; Chitayat, David; Chinn, Ivan K; Bertuch, Alison A; Karaviti, Lefkothea; Schlesinger, Alan E; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N; Eng, Christine M; Gibbs, Richard A; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E; Beaudet, Arthur L; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valérie; Shen, Wei; Mao, Rong; Heaney, Jason D; Orange, Jordan S; Genomics, University of Washington Center for Mendelian; Network, Undiagnosed Diseases; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Baker, Eva; Balasubramanyam, Ashok; Barseghyan, Hayk; Batzli, Gabriel F; Beggs, Alan H; Behnam, Babak; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Butte, Manish J; Chen, Shan; Clark, Gary D; Coakley, Terra R; Cogan, Joy D; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D’Souza, Precilla; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina M; Donnell-Fink, Laurel A; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Enns, Gregory M; Eskin, Ascia; Esteves, Cecilia
American Journal of Human Genetics. 104(3)
Academic Journal
Jain, Mahim; Tam, Allison; Shapiro, Jay R; Steiner, Robert D; Smith, Peter A; Bober, Michael B; Hart, Tracy; Cuthbertson, David; Krischer, Jeff; Mullins, Mary; Bellur, Sunil; Byers, Peter H; Pepin, Melanie; Durigova, Michaela; Glorieux, Francis H; Rauch, Frank; Lee, Brendan; Sutton, V Reid; , Members of the Brittle Bone Disorders Consortium,; Nagamani, Sandesh CS
Genetics in Medicine. 21(2)
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