학술논문
'학술논문'
에서 검색결과 38건 | 목록
1~10
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
Marcogliese, Paul C; Dutta, Debdeep; Ray, Shrestha Sinha; Dang, Nghi DP; Zuo, Zhongyuan; Wang, Yuchun; Lu, Di; Fazal, Fatima; Ravenscroft, Thomas A; Chung, Hyunglok; Kanca, Oguz; Wan, JiJun; Douine, Emilie D; Network, Undiagnosed Diseases; Pena, Loren DM; Yamamoto, Shinya; Nelson, Stanley F; Might, Matthew; Meyer, Kathrin C; Yeo, Nan Cher; Bellen, Hugo J
Science Advances. 8(3)
Academic Journal
Mis, Emily K; Sega, Annalisa G; Signer, Rebecca H; Cartwright, Tracy; Ji, Weizhen; Martinez‐Agosto, Julian A; Nelson, Stanley F; Palmer, Christina GS; Lee, Hane; Mitzelfelt, Thomas; Konstantino, Monica; Network, Undiagnosed Diseases; Jeffries, Lauren; Khokha, Mustafa K; Marco, Elysa; Martin, Martin G; Lakhani, Saquib A
American Journal of Medical Genetics Part A. 185(4)
Academic Journal
Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane
American Journal of Human Genetics. 107(2)
Academic Journal
AlAbdi, Lama; Desbois, Muriel; Rusnac, Domniţa-Valeria; Sulaiman, Raashda A; Rosenfeld, Jill A; Lalani, Seema; Murdock, David R; Burrage, Lindsay C; Network, Undiagnosed Diseases; Au, Ping Yee Billie; Towner, Shelley; Wilson, William G; Wong, Lawrence; Brunet, Theresa; Strobl-Wildemann, Gertrud; Burton, Jennifer E; Hoganson, George; McWalter, Kirsty; Begtrup, Amber; Zarate, Yuri A
Academic Journal
Béziat, Vivien; Tavernier, Simon J; Chen, Yin-Huai; S., Cindy; Materna, Marie; Laurence, Arian; Staal, Jens; Aschenbrenner, Dominik; Roels, Lisa; Worley, Lisa; Claes, Kathleen; Gartner, Lisa; Kohn, Lisa A; De Bruyne, Marieke; Schmitz-Abe, Klaus; Charbonnier, Louis-Marie; Keles, Sevgi; Nammour, Justine; Vladikine, Natasha; Renkilaraj, Majistor Raj Luxman Maglorius; Seeleuthner, Yoann; Migaud, Mélanie; Rosain, Jérémie; Jeljeli, Mohamed; Boisson, Bertrand; Van Braeckel, Eva; Rosenfeld, Jill A; Dai, Hongzheng; Burrage, Lindsay C; Murdock, David R; Lambrecht, Bart N; Avettand-Fenoel, Véronique; Vogel, Tiphanie P; Network, Undiagnosed Diseases; Esther, Charles R; Haskologlu, Sule; Dogu, Figen; Ciznar, Peter; Boutboul, David; Ouachée-Chardin, Marie; Amourette, Jean; Lebras, Marie-Noëlle; Gauvain, Clément; Tcherakian, Colas; Ikinciogullari, Aydan; Beyaert, Rudi; Abel, Laurent; Milner, Joshua D; Grimbacher, Bodo; Couderc, Louis-Jean; Butte, Manish J; Freeman, Alexandra F; Catherinot, Émilie; Fieschi, Claire; Chatila, Talal A; Tangye, Stuart G; Uhlig, Holm H; Haerynck, Filomeen; Casanova, Jean-Laurent; Puel, Anne
Journal of Experimental Medicine. 217(6)
Academic Journal
Huang, Huiyan; Pan, Jiehong; Spielberg, David R.; Hanchard, Neil A.; Scott, Daryl A.; Burrage, Lindsay C.; Dai, Hongzheng; Murdock, David; Rosenfeld, Jill A.; Mohammad, Ariz; Huang, Tao; Lindsey, Anika G.; Kim, Hyori; Chen, Jian; Ramu, Avinash; Morrison, Stephanie A.; Dawson, Zachary D.; Hu, Alex Z.; Tycksen, Eric; Silverman, Gary A.; Baldridge, Dustin; Wambach, Jennifer A.; Network, Undiagnosed Diseases; Pak, Stephen C.; Brody, Steven L.; Schedl, Tim
Proceedings of the National Academy of Sciences of the United States. February 8, 2022, Vol. 119 Issue 6, p1H, 10 p.
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
Kumar, Akash; Zastrow, Diane B; Kravets, Elijah J; Beleford, Daniah; Ruzhnikov, Maura RZ; Grove, Megan E; Dries, Annika M; Kohler, Jennefer N; Waggott, Daryl M; Yang, Yaping; Huang, Yong; Network, Undiagnosed Diseases; Mackenzie, Katherine M; Eng, Christine M; Fisher, Paul G; Ashley, Euan A; Teng, Joyce M; Stevenson, David A; Shieh, Joseph T; Wheeler, Matthew T; Bernstein, Jonathan A
American Journal of Medical Genetics Part A. 179(6)
Academic Journal
DeBalsi, Karen L.; Newman, John H.; Sommerville, Laura J.; Phillips, John A.; Hamid, Rizwan; Cogan, Joy; Fessel, Joshua P.; Evans, Anne M.; Network, Undiagnosed Diseases; Kennedy, Adam D.
Metabolites. March 2023, Vol. 13 Issue 3
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[AR] Network, Undiagnosed Diseases
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