학술논문
'학술논문'
에서 검색결과 22건 | 목록
1~10
Academic Journal
Abouhala, Siwaar; Albert, Jessica; Almalvez, Miguel; Alvarez, Raquel; Amin, Mutaz; Anderson, Peter; Aradhya, Swaroop; Ashley, Euan; Assimes, Themistocles; Auriga, Light; Austin-Tse, Christina; Bamshad, Mike; Barseghyan, Hayk; Baxter, Samantha; Behera, Sairam; Beheshti, Shaghayegh; Bejerano, Gill; Berger, Seth; Bernstein, Jon; Best, Sabrina; Blankenmeister, Benjamin; Blue, Elizabeth; Boerwinkle, Eric; Bonkowski, Emily; Bonner, Devon; Boone, Philip; Bornhorst, Miriam; Bozkurt-Yozgatli, Tugce; Brand, Harrison; Buckingham, Kati; Calame, Daniel; Casadei, Silvia; Chadwick, Lisa; Chavez, Clarisa; Chen, Ziwei; Chinn, Ivan; Chong, Jessica; Coban-Akdemir, Zeynep; Cohen, Andrea J.; Conner, Sarah; Conomos, Matthew; Coveler, Karen; Cui, Ya Allen; Currin, Sara; Daber, Robert; Dardas, Zain; Davis, Colleen; Dawood, Moez; de Dios, Ivan; de Esch, Celine; Delaney, Meghan; Délot, Emmanuèle; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fatih, Jawid; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Pagé; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Guarischi Sousa, Rodrigo; Gudmundsson, Sanna; Gulati, Ashima; Guo, Daniel; Hale, Walker; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Herman, Isabella; Horike-Pyne, Martha; Hu, Jianhong; Huang, Yongqing; Hwang, James; Jarvik, Gail; Jensen, Tanner; Jhangiani, Shalini; Jimenez-Morales, David; Jin, Christopher; Saad, Ahmed K.; Kahn-Kirby, Amanda; Kain, Jessica; Kaur, Parneet; Keehan, Laura; Knoblach, Susan; Ko, Arthur; Kohler, Jennefer; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James; Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Kumara Mastrorosa, Francesco; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Rodrigo Mendez, Hector; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moussa, Hala Mohamed; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Neu, Matthew B.; Nguyen, Jonathan; Nguyen, Thuy-mi P.; Nussbaum, Robert; Nykamp, Keith; O'Callaghan, William; O'Heir, Emily; O'Leary, Melanie; Olsen, Jeren; Osei-Owusu, Ikeoluwa; O'Donnell-Luria, Anne; Padhi, Evin; Pais, Lynn; Pan, Miao; Panchal, Piyush; Patterson, Karynne; Payne, Sheryl; Pehlivan, Davut; Petrowski, Paul; Pham, Alicia; Pitsava, Georgia; Podesta, Astaria; Ponce, Sarah; Posey, Jennifer; Prosser, Jaime; Quertermous, Thomas; Rai, Archana; Ramani, Arun; Rehm, Heidi; Reuter, Chloe; Reuter, Jason; Richardson, Matthew; Rivera-Munoz, Andres; Rubio, Oriane; Sabo, Aniko; Salani, Monica; Samocha, Kaitlin; Sanchis-Juan, Alba; Savage, Sarah; Scott, Stuart; Scott, Evette; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Josh; Smith, Kevin; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sundaram, Laksshman; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael; Tise, Christina; Tong, Catherine; Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Wong, Issac; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Wojcik, Monica H.; Reuter, Chloe M.; Duyzend, Michael H.; Boone, Philip M.; Groopman, Emily E.; Délot, Emmanuèle C.; Jain, Deepti; Starita, Lea M.; Montgomery, Stephen B.; Bamshad, Michael J.; Chong, Jessica X.; Wheeler, Matthew T.; Berger, Seth I.; Sedlazeck, Fritz J.
In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248
Academic Journal
Lin, Sheng-Jia; Vona, Barbara; Lau, Tracy; Huang, Kevin; Zaki, Maha S.; Aldeen, Huda Shujaa; Karimiani, Ehsan Ghayoor; Rocca, Clarissa; Noureldeen, Mahmoud M.; Saad, Ahmed K.; Petree, Cassidy; Bartolomaeus, Tobias; Abou Jamra, Rami; Zifarelli, Giovanni; Gotkhindikar, Aditi; Wentzensen, Ingrid M.; Liao, Mingjuan; Cork, Emalyn Elise; Varshney, Pratishtha; Hashemi, Narges
Broadening the clinical spectrum of ALGS: an Egyptian cohort with five novel mutations in JAG1 gene.
Academic Journal
Khairat, Rabab; El-Karaksy, Hanaa; El-Bassyouni, Hala T.; Saad, Ahmed K.; Rabie, Eman; Hamed, Khaled; Yassin, Noha A.
Academic Journal
Elbendary, Hasnaa M.; Marafi, Dana; Saad, Ahmed K.; Elhossini, Rasha; Duan, Ruizhi; Rafat, Karima; Jhangiani, Shalini N.; Gibbs, Richard A.; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Lupski, James R.; Zaki, Maha S.
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
Lin, Sheng-Jia; Vona, Barbara; Lau, Tracy; Huang, Kevin; Zaki, Maha S.; Aldeen, Huda Shujaa; Karimiani, Ehsan Ghayoor; Rocca, Clarissa; Noureldeen, Mahmoud M.; Saad, Ahmed K.; Petree, Cassidy; Bartolomaeus, Tobias; Abou Jamra, Rami; Zifarelli, Giovanni; Gotkhindikar, Aditi; Wentzensen, Ingrid M.; Liao, Mingjuan; Cork, Emalyn Elise; Varshney, Pratishtha; Hashemi, Narges; Mohammadi, Mohammad Hasan; Rad, Aboulfazl; Neira, Juanita; Toosi, Mehran Beiraghi; Knopp, Cordula; Kurth, Ingo; Challman, Thomas D.; Smith, Rebecca; Abdalla, Asmahan; Haaf, Thomas; Suri, Mohnish; Joshi, Manali; Chung, Wendy K.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza; Varshney, Gaurav K.
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; Calame, Daniel G.; Pehlivan, Davut; Gibbs, Richard A.; Posey, Jennifer E.; Houlden, Henry; Lupashin, Vladimir V.; Zaki, Maha S.; Freeze, Hudson H.; Lupski, James R.
Academic Journal
Saad, Ahmed K.; Maraf, 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.
American Journal of Medical Genetics. Part A; Apr2021, Vol. 185 Issue 4, p1288-1293, 6p
Academic Journal
Saad, Ahmed K.; Marafi, Dana; Mitani, Tadahiro; Jolly, Angad; Du, Haowei; Elbendary, Hasnaa M.; Jhangiani, Shalini N.; Akdemir, Zeynep C.; Gibbs, Richard A.; Hunter, Jill V.; Carvalho, Claudia M. B. C.; Pehlivan, Davut; Posey, Jennifer E.; Zaki, Maha S.; Lupski, James R.; Baylor-Hopkins Ctr Mendelian
Academic Journal
Jayasooriya, Upali A.; Cannon, Roderick D.; Anson, Christopher E.; Karu, Elisha; Saad, Ahmed K.; Bourke, John P.; Kearley, Gordon J.; White, Ross P.
Angewandte Chemie International Edition; Feb1998, Vol. 37 Issue 3, p317-320, 4p
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[AR] Saad, Ahmed K.
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