학술논문
'학술논문'
에서 검색결과 125건 | 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
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, Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Østergaard, Elsebet; Nazaryan-Petersen, Lusine; 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; Hrabě de Angelis, Martin; Hölter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R.
In The American Journal of Human Genetics 3 August 2023 110(8):1394-1413
Academic Journal
Thomas, Quentin; Gautier, Thierry; Marafi, Dana; Besnard, Thomas; Willems, Marjolaine; Moutton, Sébastien; Isidor, Bertand; Cogné, Benjamin; Conrad, Solène; Tenconi, Romano; Iascone, Maria; Sorlin, Arthur; Masurel, Alice; Dabir, Tabib; Jackson, Adam; Banka, Siddharth; Delanne, Julian; Lupski, James R.; Saadi, Nebal Waill; Alkuraya, Fowzan S.; Zahrani, Fatema Al; Agrawal, Pankaj B. ; England, Eleina ; Madden, Jill A. ; Posey, Jennifer E. ; Burglen, Lydie ; Rodriguez, Diana ; Chevarin, Martin; Nguyen, Sylvie; Mau-Them, Frédéric Tran; Duffourd, Yannis; Garret, Philippine; Bruel, Ange-Line; Callier, Patrick; Marle, Nathalie; Denomme-Pichon, Anne-Sophie; Duplomb, Laurence; Philippe, Christophe; Thauvin-Robinet, Christel ; Govin, Jérôme; Faivre, Laurence; Vitobello, Antonio
In Genetics in Medicine October 2021 23(10):1901-1911
Academic Journal
Mitani, Tadahiro; Isikay, Sedat; Gezdirici, Alper; Gulec, Elif Yilmaz; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gulsen; Du, Haowei; Calame, Daniel G.; Ayaz, Akif; Tos, Tulay; Yesil, Gozde; Aydin, Hatip; Geckinli, Bilgen; Elcioglu, Nursel; Candan, Sukru; Sezer, Ozlem; Erdem, Haktan Bagis; Gul, Davut; Demiral, Emine; Elmas, Muhsin; Yesilbas, Osman; Kilic, Betul; Gungor, Serdal; Ceylan, Ahmet C.; Bozdogan, Sevcan; Ozalp, Ozge; Cicek, Salih; Aslan, Huseyin; Yalcintepe, Sinem; Topcu, Vehap; Bayram, Yavuz; Grochowski, Christopher M.; Jolly, Angad; Dawood, Moez; Duan, Ruizhi; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Marafi, Dana; Akdemir, Zeynep Coban; Karaca, Ender; Carvalho, Claudia M.B.; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Pehlivan, Davut
In The American Journal of Human Genetics August 2021
Academic Journal
Pillai, Nishitha R.; Marafi, Dana; Monteiro, Sonia A.; Parnes, Mered; Chandy, Binoy Mathew; Patel, Ankita; Bacino, Carlos A.; Breman, Amy M.; Burrage, Lindsay C.
In European Journal of Medical Genetics June 2019 62(6)
Book
In Neurogenetics for the Practitioner 2024:17-37
Academic Journal
Aburezq, Maryam; Alahmad, Ahmad; Alsafi, Rasha; Al-Tawari, Asma; Ramadan, Dina; Shafik, Magdy; Abdelaty, Omar; Makhseed, Nawal; Elshafie, Reem; Ayed, Mariam; Hayat, Abrar; Dashti, Fatima; Marafi, Dana; Albash, Buthaina; Bastaki, Laila; Alsharhan, Hind
Academic Journal
Cetica, Valentina; Pisano, Tiziana; Lesca, Gaetan; Marafi, Dana; Licchetta, Laura; Riccardi, Florence; Mei, Davide; Chung, Hon‐yin B.; Bayat, Allan; Balasubramanian, Meena; Lowenstein, Daniel H.; Endzinienė, Milda; Alotaibi, Maha; Villeneuve, Nathalie; Jacobs, Julia; Isidor, Bertrand; Solazzi, Roberta; Hollander, Nicolette S.; Marjanovic, Dragan; Rougeot‐Jung, Christelle
Academic Journal
Almannai, Mohammed; Marafi, Dana; Zaki, Maha S.; Maroofian, Reza; Efthymiou, Stephanie; Saadi, Nebal Waill; Filimban, Bilal; Dafsari, Hormos Salimi; Rahman, Fatima; Maqbool, Shazia; Faqeih, Eissa; Al Mutairi, Fuad; Alsharhan, Hind; Abdelaty, Omar; Bin‐Hasan, Saadoun; Duan, Ruizhi; Noureldeen, Mahmoud M.; Alqattan, Alaa; Houlden, Henry; Hunter, Jill V.
Baek, Rena C.; Bonardo, Pablo; Brady, Philip; Butterfield, Russell J.; Calame, Daniel G.; Chung, Wendy K.; Cohen, Bernard A.; Corvin, Aiden; Daich Varela, Malena; de Boer, Irene; Dyment, David A.; Eratne, Dhamidhu; Fassad, Mahmoud R.; Federico, Antonio; Fink, John K.; Finn, Patrick F.; Georgiou, Michalis; Gill, Pritmohinder S.; Heron, Elizabeth; Huq, Aamira J.; Jinnah, H.A.; Kernohan, Kristin D.; Kim, Jong-Won; Kinariwalla, Neha; Koleilat, Alaa; Lawrence, Chloe J.; Lequin, Maarten; Li, Hong; Lin, Ava Yun; Lupski, James R.; Lynch, David S.; Manberg, Stephanie; Marafi, Dana; Martini, Paolo G.V.; Matthews, Emma; McFarland, Robert; Menkovic, Iskren; Michaelides, Michel; Millington, David S.; Muthusamy, Karthik; Oegema, Renske; Ormond, Cathal; Park, Helen H.; Park, Kyung Sun; Pastores, Gregory M.; Patel, Krutik; Porter-Gill, Patricia A.; Reisin, Ricardo; Rule, Don; Ryan, Niamh; Scarpa, Maurizio; Schimmenti, Lisa A.; Schottlaender, Lucía; Tay, Stacey K.H.; Taylor, Robert W.; Terwindt, Gisela M.; van den Maagdenberg, Arn M.J.M.; Velakoulis, Dennis; Vengoechea, Jaime; Wade, Charles; Wagner, Matias; Wang, Leo H.; Wortmann, Saskia B.; Younger, David S.; Yu, Feliciano B., Jr.; Ziegler, Alban C.
In Neurogenetics for the Practitioner 2024:xiii-xv
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[AR] Marafi, Dana
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