학술논문
'학술논문'
에서 검색결과 141건 | 목록
10~20
Academic Journal
Sobreira, Nara; Griffith, Sean; Antonescu, Corina; Vail, Laura; Posey, Jennifer; Coban-Akdemir, Zeynep; Jhangiani, Shalini; Doheny, Kimberly; Lupski, James; Valle, David; Hamosh, Ada; Martin, Renan
In Genetics in Medicine Open 2023 1(1) Supplement
Academic Journal
Lima, Ariadne R; Ferreira, Barbara M; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J; Dawood, Moez; Lins, Tulio C; Chiabai, Marcela A; Beusekom, Ellen; Cordoba, Mara S; Rosa, Erica CC Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri‐Costa, Antonio; Brunoni, Décio; Canó, Talyta M; Jorge, Alexander AL; Kim, Chong A; Honjo, Rachel; Bertola, Débora R; Dandalo‐Girardi, Raissa M; Bayram, Yavuz; Gezdirici, Alper; Yilmaz‐Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N; Muzny, Donna M; Regattieri, Neysa AP; Pogue, Robert; Pereira, Rinaldo W; Otto, Paulo A; Gibbs, Richard A; Ali, Bassam R; Bokhoven, Hans; Brunner, Han G; Sutton, V Reid; Lupski, James R; Vianna‐Morgante, Angela M; Carvalho, Claudia MB; Mazzeu, Juliana F
Human Mutation. 43(7)
Periodical
Poli, M. Cecilia; Rebolledo-Jaramillo, Boris; Lagos, Catalina; Orellana, Joan; Moreno, Gabriela; Martín, Luz M.; Encina, Gonzalo; Böhme, Daniela; Faundes, Víctor; Zavala, M. Jesús; Hasbún, Trinidad; Fischer, Sara; Brito, Florencia; Araya, Diego; Lira, Manuel; de la Cruz, Javiera; Astudillo, Camila; Lay-Son, Guillermo; Cares, Carolina; Aracena, Mariana; Martin, Esteban San; Coban-Akdemir, Zeynep; Posey, Jennifer E.; Lupski, James R.; Repetto, Gabriela M.
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-11, 11p
Academic Journal
Duan, Ruizhi; Marafi, Dana; Xia, Zhi‐Jie; Ng, Bobby G.; Maroofian, Reza; Sumya, Farhana Taher; Saad, Ahmed K.; Du, Haowei; Fatih, Jawid M.; Hunter, Jill V.; Elbendary, Hasnaa M.; Baig, Shahid M.; Abdullah, Uzma; Ali, Zafar; Efthymiou, Stephanie; Murphy, David; Mitani, Tadahiro; Withers, Marjorie A.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep
Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1195-1205, 11p
Academic Journal
Wohler, Elizabeth; Martin, Renan; Griffith, Sean; Rodrigues, Eliete da S.; Antonescu, Corina; Posey, Jennifer E.; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Hamosh, Ada; Sobreira, Nara
Academic Journal
Dardas, Zain; Fatih, Jawid M.; Jolly, Angad; Dawood, Moez; Du, Haowei; Grochowski, Christopher M.; Jones, Edward G.; Jhangiani, Shalini N.; Wehrens, Xander H. T.; Liu, Pengfei; Bi, Weimin; Boerwinkle, Eric; Posey, Jennifer E.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Coban-Akdemir, Zeynep; Morris, Shaine A.
Academic Journal
Academic Journal
Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Gezdirici, Alper; Najmabadi, Hossein; Kahrizi, Kimia; Punetha, Jaya; Grochowski, Christopher M.; Du, Haowei; Jolly, Angad; Li, He; Coban‐Akdemir, Zeynep; Sedlazeck, Fritz J.; Hunter, Jill V.; Jhangiani, Shalini N.; Muzny, Donna; Pehlivan, Davut; Posey, Jennifer E.
American Journal of Medical Genetics. Part A; Mar2023, Vol. 191 Issue 3, p794-804, 11p
Academic Journal
Du, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M.; Jhangiani, Shalini N.; Li, He; Muzny, Donna; Fatih, Jawid M.; Yesil, Gozde; Elcioglu, Nursel H.; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R.
Academic Journal
Petit, Florence; Longoni, Mauro; Wells, Julie; Maser, Richard S.; Bogenschutz, Eric L.; Dysart, Matthew J.; Contreras, Hannah T. M.; Frenois, Frederic; Pober, Barbara R.; Clark, Robin D.; Giampietro, Philip F.; Ropers, Hilger H.; Hu, Hao; Loscertales, Maria; Wagner, Richard; Ai, Xingbin; Brand, Harrison; Jourdain, Anne-Sophie; Delrue, Marie-Ange; Gilbert-Dussardier, Brigitte; Devisme, Louise; Keren, Boris; McCulley, David J.; Qiao, Lu; Hernan, Rebecca; Wynn, Julia; Scott, Tiana M.; Calame, Daniel G.; Coban-Akdemir, Zeynep; Hernandez, Patricia; Hernandez-Garcia, Andres; Yonath, Hagith; Lupski, James R.; Shen, Yufeng; Chung, Wendy K.; Scott, Daryl A.; Bult, Carol J.; Donahoe, Patricia K.; High, Frances A.
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[AR] Coban-Akdemir, Zeynep
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