학술논문
'학술논문'
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1~10
Academic Journal
Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Undiagnosed Dis Network, Francisca; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R.; Nazaryan-Petersen, L
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.; Carvalho, Claudia M. B.; Gibbs, Richard A.; Lupski, James R.
Academic Journal
Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.
Academic Journal
Almannai, Mohammed; Marafi, Dana; Abdel-Salam, Ghada M. H.; Zaki, Maha S.; Duan, Ruizhi; Calame, Daniel; Herman, Isabella; Levesque, Felix; Elbendary, Hasnaa M.; Hegazy, Ibrahim; Chung, Wendy K.; Kavus, Haluk; Saeidi, Kolsoum; Maroofian, Reza; AlHashim, Aqeela; Al-Otaibi, Ali; Al Madhi, Asma; Abou Al-Seood, Hager M.; Alasmari, Ali; Houlden, Henry; Gleeson, Joseph G.; Hunter, Jill, V; Posey, Jennifer E.; Lupski, James R.; El-Hattab, Ayman W.
Academic Journal
Schmidt, Adam T.; Lindsey, Hannah M.; Dennis, Emily; Wilde, Elisabeth A.; Bieknian, Brian D.; Chu, Zili D.; Hanten, Gerri R.; Fornion, Dana L.; Spruiell, Matthew S.; Hunter, Jill, V; Levin, Harvey S.
Academic Journal
Marafi, Dana; Fatih, Jawid M.; Kaiyrzhanov, Rauan; Ferla, Matteo P.; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S.; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M.; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A.; Mullegama, Sureni, V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S.; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Gibbs, Richard A.; Taylor, Jenny C.; Fakhro, Khalid A.; Hunter, Jill, V; Pehlivan, Davut; Zaki, Maha S.; Gleeson, Joseph G.; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E.; Sutton, V. Reid; Alkuraya, Fowzan S.; Elsea, Sarah H.; Lupski, James R.
Academic Journal
Keehan, Laura; Jiang, Ming-Ming; Li, Xiaohui; Marom, Ronit; Dai, Hongzheng; Murdock, David; Liu, Pengfei; Hunter, Jill, V; Heaney, Jason D.; Robak, Laurie; Emrick, Lisa; Lotze, Timothy; Blieden, Lauren S.; Lewis, Richard Alan; Levin, Alex, V; Capasso, Jenina; Craigen, William J.; Rosenfeld, Jill A.; Lee, Brendan; Burrage, Lindsay C.
Academic Journal
Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H.; Hickey, Scott E.; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A.; Armstrong-Javors, Amy; Mencacci, Niccolo E.; Gonzalez-Latapi, Paulina; Kamel, Walaa A.; Al-Hashel, Jasem Y.; Bustos, Bernabe, I; Hernandez, Alejandro, V; Krainc, Dimitri; Lubbe, Steven J.; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G.; Mitani, Tadahiro; Marafi, Dana; Pehlivan, Davut; Saadi, Nebal W.; Sahin, Yavuz; Maroofian, Reza; Efthymiou, Stephanie; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Gu, Shen; Posey, Jennifer E.; Lupski, James R.; Hunter, Jill, V; Wangler, Michael F.; Carroll, Christopher J.; Yang, Yaping
Academic Journal
Saad, Ahmed K.; Marafi, Dana; Mitani, Tadahiro; Du, Haowei; Rafat, Karima; Fatih, Jawid M.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Gibbs, Richard A.; Pehlivan, Davut; Hunter, Jill, V; Posey, Jennifer E.; Zaki, Maha S.; Lupski, James R.; Baylor-Hopkins Ctr Mendelian Genom
Academic Journal
Musso, Mary Frances; Lindsey, Hannah M.; Wilde, Elisabeth A.; Hunter, Jill, V; Glaze, Daniel G.; Goodrich-Hunsaker, Naomi J.; Wu, Trevor C.; Black, Garrett; Biekman, Brian; Zhang, Wei; Zhu, Huirong; Anand, Grace Shebha; Friedman, Ellen M.
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[AR] Hunter, Jill, V
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