학술논문
'학술논문'
에서 검색결과 139건 | 목록
1~10
Academic Journal
Hannah-Shmouni, Fady; Boyd, Louisa; Papadakis, Georgios Z.; Tirosh, Amit; Gahl, William A; Estrada-Veras, Juvianee I.; O'Brien, Kevin
In Endocrine and Metabolic Science July 2020 1(1-2)
Academic Journal
Baghdassarian, Hratch; Blackstone, Sarah A; Clay, Owen S; Philips, Rachael; Matthiasardottir, Brynja; Nehrebecky, Michele; Hua, Vivian K; McVicar, Rachael; Liu, Yang; Tucker, Suzanne M; Randazzo, Davide; Deuitch, Natalie; Rosenzweig, Sofia; Mark, Adam; Sasik, Roman; Fisch, Kathleen M; Pimpale Chavan, Pallavi; Eren, Elif; Watts, Norman R; Ma, Chi A; Gadina, Massimo; Schwartz, Daniella M; Sanyal, Anwesha; Werner, Giffin; Murdock, David R; Horita, Nobuyuki; Chowdhury, Shimul; Dimmock, David; Jepsen, Kristen; Remmers, Elaine F; Goldbach-Mansky, Raphaela; Gahl, William A; O'Shea, John J; Milner, Joshua D; Lewis, Nathan E; Chang, Johanna; Kastner, Daniel L; Torok, Kathryn; Oda, Hirotsugu; Putnam, Christopher D; Broderick, Lori
New England Journal of Medicine. 388(24)
Academic Journal
Soldatos, Ariane; Nutman, Thomas B; Johnson, Tory; Dowell, Scott F; Sejvar, James J; Wilson, Michael R; DeRisi, Joseph L; Inati, Sara K; Groden, Catherine; Evans, Colleen; O'Connell, Elise M; Toliva, Bernard Opar; Aceng, Jane R; Aryek-Kwe, Josephine; Toro, Camilo; Stratakis, Constantine A; Buckler, A Gretchen; Cantilena, Cathy; Palmore, Tara N; Thurm, Audrey; Baker, Eva H; Chang, Richard; Fauni, Harper; Adams, David; Macnamara, Ellen F; Lau, C Christopher; Malicdan, May Christine V; Pusey-Swerdzewski, Barbara; Downing, Robert; Bunga, Sudhir; Thomas, Jerry D; Gahl, William A; Nath, Avindra
Brain. 146(3)
Academic Journal
Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M; Murphy, Jennifer L; Acosta, Maria T; Wang, Camille; Alderman, Emily; Reichert, Sara; Thurm, Audrey; Adams, David R; Introne, Wendy J; Gorski, Sharon M; Boerkoel, Cornelius F; Gahl, William A; Tifft, Cynthia J; Malicdan, May Christine V
npj Genomic Medicine. 8(1)
Cassini, Thomas A.; Malicdan, May Christine V.; Macnamara, Ellen F.; Lehky, Tanya; Horkayne-Szakaly, Iren; Huang, Yan; Jones, Robert; Godfrey, Rena; Wolfe, Lynne; Gahl, William A; Toro, Camilo
In Neuromuscular Disorders March 2023 33(3):257-262
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)
Academic Journal
Periodical
Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 3 p212-223, 12p
Academic Journal
Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos PN; van Lint, Alida EM; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Undiagnosed Diseases Network; Waisfisz, Quinten; Zwijnenburg, Petra JG; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine HC; Wanders, Ronald JA; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
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)
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