학술논문
'학술논문'
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1~10
Academic Journal
Bainbridge, Matthew N; Mazumder, Aloran; Ogasawara, Daisuke; Jamra, Rami Abou; Bernard, Geneviève; Bertini, Enrico; Burglen, Lydie; Cope, Heidi; Crawford, Ali; Derksen, Alexa; Dure, Leon; Gantz, Emily; Koch-Hogrebe, Margarete; Hurst, Anna CE; Mahida, Sonal; Marshall, Paige; Micalizzi, Alessia; Novelli, Antonio; Peng, Hongfan; Medicine, Rady Children's Institute for Genomic; Rodriguez, Diana; Robbins, Shira L; Rutledge, S Lane; Scalise, Roberta; Schließke, Sophia; Shashi, Vandana; Srivastava, Siddharth; Thiffault, Isabella; Topol, Sarah; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; 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; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; 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 Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn
Brain. 145(10)
Academic Journal
Shankar, Suma P; Grimsrud, Kristin; Lanoue, Louise; Egense, Alena; Willis, Brandon; Hörberg, Johanna; AlAbdi; Mayer, Klaus; Ütkür, Koray; Monaghan, Kristin G; Krier, Joel; Stoler, Joan; Alnemer, Maha; Shankar, Prabhu R; Schaffrath, Raffael; Alkuraya, Fowzan S; Brinkmann, Ulrich; Eriksson, Leif A; Lloyd, Kent; Rauen, Katherine A; Network, Undiagnosed Diseases; Acosta, Maria T; Adam, Margaret; Adams, David R; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; 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; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C; Brokamp, Elly; 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 Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Coggins, Matthew; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G; Deardorff, Matthew; Dell'Angelica, Esteban C; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L; Douine, Emilie D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Fieg, Elizabeth L; Fisher, Paul G
Genetics in Medicine. 24(7)
Academic Journal
Accogli, Andrea; Calabretta, Sara; St-Onge, Judith; Boudrahem-Addour, Nassima; Dionne-Laporte, Alexandre; Joset, Pascal; Azzarello-Burri, Silvia; Rauch, Anita; Krier, Joel; Fieg, Elizabeth; Pallais, Juan C; Network, Undiagnosed Diseases; Acosta, Maria T; Adams, David R; Agrawal, Pankaj; Alejandro, Mercedes E; Allard, Patrick; Alvey, Justin; Andrews, Ashley; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Barbouth, Deborah; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beggs, Alan H; Bejerano, Gill; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bivona, Stephanie; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Botto, Lorenzo; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao-Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D’Souza, Precilla; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Dell’Angelica, Esteban C; Dhar, Shweta U; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Godfrey, Rena A; Goldman, Alica M; Goldstein, David B; Gourdine, Jean-Philippe F; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A; Hayes, Nichole
American Journal of Human Genetics. 105(4)
Academic Journal
Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T; Choi, Murim; Kontrogianni‐Konstantopoulos, Aikaterini; Acosta, Maria T; Adams, David R; Aday, Aaron; Alejandro, Mercedes E; Allard, Patrick; Ashley, Euan A; Azamian, Mahshid S; Bacino, Carlos A; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Barbouth, Deborah; Batzli, Gabriel F; Beggs, Alan H; Bellen, Hugo J; Bernstein, Jonathan A; Berry, Gerard T; Bican, Anna; Bick, David P; Birch, Camille L; Bivona, Stephanie; Bonnenmann, Carsten; Bonner, Devon; Boone, Braden E; Bostwick, Bret L; Briere, Lauren C; Brokamp, Elly; Brown, Donna M; Brush, Matthew; Burke, Elizabeth A; Burrage, Lindsay C; Butte, Manish J; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chao, Hsiao‐Tuan; Clark, Gary D; Coakley, Terra R; Cobban, Laurel A; Cogan, Joy D; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Cope, Heidi; Craigen, William J; D'Souza, Precilla; Dasari, Surendra; Davids, Mariska; Davidson, Jean M; Dayal, Jyoti G; Dell'Angelica, Esteban C; Dhar, Shweta U; Dorrani, Naghmeh; Dorset, Daniel C; Douine, Emilie D; Draper, David D; Dries, Annika M; Duncan, Laura; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Enns, Gregory M; Esteves, Cecilia; Estwick, Tyra; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Friedman, Noah D; Gahl, William A; Godfrey, Rena A; Goldman, Alica M; Goldstein, David B; Gourdine, Jean‐Philippe F; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; Haendel, Melissa; Hamid, Rizwan; Hanchard, Neil A; High, Frances; Holm, Ingrid A
Human Mutation. 40(8)
Academic Journal
Attarian, Stephanie J; Leibel, Sandra L; Yang, Ping; Alfano, Danielle N; Hackett, Brian P; Cole, F Sessions; Hamvas, Aaron
Pediatric Research. 84(3)
Academic Journal
Khan, Alisa; Coffey, Maitreya; Litterer, Katherine P; Baird, Jennifer D; Furtak, Stephannie L; Garcia, Briana M; Ashland, Michele A; Calaman, Sharon; Kuzma, Nicholas C; O’Toole, Jennifer K; Patel, Aarti; Rosenbluth, Glenn; Destino, Lauren A; Everhart, Jennifer L; Good, Brian P; Hepps, Jennifer H; Dalal, Anuj K; Lipsitz, Stuart R; Yoon, Catherine S; Zigmont, Katherine R; Srivastava, Rajendu; Starmer, Amy J; Sectish, Theodore C; Spector, Nancy D; West, Daniel C; Landrigan, Christopher P; Allair, Brenda K; Alminde, Claire; Alvarado-Little, Wilma; Atsatt, Marisa; Aylor, Megan E; Bale, James F; Balmer, Dorene; Barton, Kevin T; Beck, Carolyn; Bismilla, Zia; Blankenberg, Rebecca L; Chandler, Debra; Choudhary, Amanda; Christensen, Eileen; Coghlan-McDonald, Sally; Cole, F Sessions; Corless, Elizabeth; Cray, Sharon; Da Silva, Roxi; Dahale, Devesh; Dreyer, Benard; Growdon, Amanda S; Gubler, LeAnn; Guiot, Amy; Harris, Roben; Haskell, Helen; Kocolas, Irene; Kruvand, Elizabeth; Lane, Michele Marie; Langrish, Kathleen; Ledford, Christy JW; Lewis, Kheyandra; Lopreiato, Joseph O; Maloney, Christopher G; Mangan, Amanda; Markle, Peggy; Mendoza, Fernando; Micalizzi, Dale Ann; Mittal, Vineeta; Obermeyer, Maria; O’Donnell, Katherine A; Ottolini, Mary; Patel, Shilpa J; Pickler, Rita; Rogers, Jayne Elizabeth; Sanders, Lee M; Sauder, Kimberly; Shah, Samir S; Sharma, Meesha; Simpkin, Arabella; Subramony, Anupama; Thompson, E Douglas; Trueman, Laura; Trujillo, Tanner; Turmelle, Michael P; Warnick, Cindy; Welch, Chelsea; White, Andrew J; Wien, Matthew F; Winn, Ariel S; Wintch, Stephanie; Wolf, Michael; Yin, H Shonna; Yu, Clifton E
JAMA Pediatrics. 171(4)
Academic Journal
Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito‐Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez‐Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Genomics, University of Washington Center for Mendelian; Matthijs, Gert; Freeze, Hudson H
Human Mutation. 37(7)
Academic Journal
Stone, Stephen I; Wegner, Daniel J; Wambach, Jennifer A; Cole, F Sessions; Urano, Fumihiko; Ornitz, David M
Journal of the Endocrine Society; Dec2020, Vol. 4 Issue 12, p1-14, 14p
Electronic Resource
Genetica Sectie Genoomdiagnostiek; Genetica Klinische Genetica; Cancer; Child Health; Ebstein, Frédéric; Küry, Sébastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M; Besnard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M W; Vignard, Virginie; van Jaarsveld, Richard H; Ades, Lesley; Cogné, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C J; Cole, F Sessions; van den Boogaard, Marie-José H; Wambach, Jennifer A; Wegner, Daniel J; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gélineau, Anne-Claire; Powis, Zöe; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T; Osmond, Matthew; Wheeler, Patricia G; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Geneviève; Barcia, Giulia; Feichtinger, René Günther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frédéric; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Völker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E; Elgersma, Ype; Hildebrand, Peter W; Bolduc, François; Krüger, Elke; Bézieau, Stéphane
Academic Journal
Sturrock, Beattie R.H.; Macnamara, Ellen F.; Mcguire, Peter; Kruk, Shannon; Yang, Ivan; Murphy, Jennifer; Tifft, Cyndi J.; Gordon‐Lipkin, Eliza; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak‐Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg‐Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao‐Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D' Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Godfrey, Rena A.; Golden‐Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike‐Pyne, Martha; Huang, Alden; Huang, Yong; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; Leblanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macrae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez‐Agosto, Julian A.; Marwaha, Shruti; Mccauley, Jacob; Mcconkie‐Rosell, Allyn; Mccormack, Colleen E.; Mccray, Alexa T.; Mcgee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano‐Okuno, Mariko; Nath, Avi; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves‐Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica‐Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tan, Queenie K.‐G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; Wambach, Jennifer; Wan, Jijun; Wang, Lee‐Kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan
Molecular Genetics & Genomic Medicine. June 2021, Vol. 9 Issue 6
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