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
Paganoni, Sabrina; Hendrix, Suzanne; Dickson, Samuel P; Knowlton, Newman; Berry, James D; Elliott, Michael A; Maiser, Samuel; Karam, Chafic; Caress, James B; Owegi, Margaret Ayo; Quick, Adam; Wymer, James; Goutman, Stephen A; Heitzman, Daragh; Heiman-Patterson, Terry D; Jackson, Carlayne; Quinn, Colin; Rothstein, Jeffrey D; Kasarskis, Edward J; Katz, Jonathan; Jenkins, Liberty; Ladha, Shafeeq S; Miller, Timothy M; Scelsa, Stephen N; Vu, Tuan H; Fournier, Christina; Johnson, Kristin M; Swenson, Andrea; Goyal, Namita; Pattee, Gary L; Babu, Suma; Chase, Marianne; Dagostino, Derek; Hall, Meghan; Kittle, Gale; Eydinov, Mathew; Ostrow, Joseph; Pothier, Lindsay; Randall, Rebecca; Shefner, Jeremy M; Sherman, Alexander V; Tustison, Eric; Vigneswaran, Prasha; Yu, Hong; Cohen, Joshua; Klee, Justin; Tanzi, Rudolph; Gilbert, Walter; Yeramian, Patrick; Cudkowicz, Merit
Journal of Neurology Neurosurgery & Psychiatry. 93(8)
Academic Journal
Kumar, Tapsi; Nee, Kevin; Wei, Runmin; He, Siyuan; Nguyen, Quy H.; Bai, Shanshan; Blake, Kerrigan; Pein, Maren; Gong, Yanwen; Sei, Emi; Hu, Min; Casasent, Anna K.; Thennavan, Aatish; Li, Jianzhuo; Tran, Tuan; Chen, Ken; Nilges, Benedikt; Kashikar, Nachiket; Braubach, Oliver; Ben Cheikh, Bassem; Nikulina, Nadya; Chen, Hui; Teshome, Mediget; Menegaz, Brian; Javaid, Huma; Nagi, Chandandeep; Montalvan, Jessica; Lev, Tatyana; Mallya, Sharmila; Tifrea, Delia F.; Edwards, Robert; Lin, Erin; Parajuli, Ritesh; Hanson, Summer; Winocour, Sebastian; Thompson, Alastair; Lim, Bora; Lawson, Devon A.; Kessenbrock, Kai; Navin, Nicholas
Nature: International weekly journal of science. 620(7972):181-191
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
Man-Fung Yuen; Scott Fung; Xiaoli Ma; Tuan T. Nguyen; Tarek Hassanein; Hie-Won Hann; Magdy Elkhashab; Ronald G. Nahass; James S. Park; Ira M. Jacobson; Walid S. Ayoub; Steven-Huy Han; Edward J. Gane; Katie Zomorodi; Ran Yan; Julie Ma; Steven J. Knox; Luisa M. Stamm; Maurizio Bonacini; Frank Weilert; Alnoor Ramji; Michael Bennett; Natarajan Ravendhran; Sing Chan; Douglas T. Dieterich; Paul Yien Kwo; Eugene R. Schiff; Ho S. Bae; Jacob Lalezari; Kosh Agarwal; Mark S. Sulkowski
JHEP Reports, Vol 6, Iss 4, Pp 100999- (2024)
Academic Journal
Mohamed Elwashahy, MD; Jason Sharp, MBBS; Dennis Wang, MBBS; Tuan Nguyen-Dang, MD; Jorge Moragues, MD; Edward J.F. Danson, BMBCh, MA(Oxon), DPhil(Lond)
JACC: Case Reports, Vol 29, Iss 7, Pp 102271- (2024)
Academic Journal
McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C; Cope, Heidi; Tan, Queenie K‐G; Palmer, Christina GS; Hooper, Stephen R; Shashi, Vandana; 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; Sessions Cole, F; Colley, Heather A; Cooper, Cynthia M; 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
Journal of Genetic Counseling. 31(1)
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