학술논문
'학술논문'
에서 검색결과 98건 | 목록
30~40
Periodical
Punetha, Jaya; Mansoor, Simin; Bertorini, Tulio E; Kesari, Akanchha; Brown, Kristy J; Hoffman, Eric P
European Journal of Human Genetics: EJHG; October 2016, Vol. 24 Issue: 10 p1511-1514, 4p
Academic Journal
Punetha, Jaya; Monges, Soledad; Franchi, Maria Emilia; Hoffman, Eric P.; Cirak, Sebahattin; Tesi-Rocha, Carolina
Periodical
Punetha, Jaya; Kesari, Akanchha; Uapinyoying, Prech; Giri, Mamta; Clarke, Nigel F.; Waddell, Leigh B.; North, Kathryn N.; Ghaoui, Roula; O’Grady, Gina L.; Oates, Emily C.; Sandaradura, Sarah A.; Bönnemann, Carsten G.; Donkervoort, Sandra; Plotz, Paul H.; Smith, Edward C.; Tesi-Rocha, Carolina; Bertorini, Tulio E.; Tarnopolsky, Mark A.; Reitter, Bernd; Hausmanowa-Petrusewicz, Irena; Hoffman, Eric P.
Journal of Neuromuscular Diseases; May 2016, Vol. 3 Issue: 2 p209-225, 17p
Academic Journal
Circulation: Cardiovascular Genetics; Aug2013, Vol. 6 Issue 4, p427-434, 8p
Academic Journal
Carss, Keren?J.; Stevens, Elizabeth; Foley, A.?Reghan; Cirak, Sebahattin; Riemersma, Moniek; Torelli, Silvia; Hoischen, Alexander; Willer, Tobias; van?Scherpenzeel, Monique; Moore, Steven?A.; Messina, Sonia; Bertini, Enrico; Bönnemann, Carsten?G.; Abdenur, Jose?E.; Grosmann, Carla?M.; Kesari, Akanchha; Punetha, Jaya; Quinlivan, Ros; Waddell, Leigh?B.; Young, Helen?K.
Periodical
Baxter, Samantha M.; Posey, Jennifer E.; Lake, Nicole J.; Sobreira, Nara; Chong, Jessica X.; Buyske, Steven; Blue, Elizabeth E.; Chadwick, Lisa H.; Coban-Akdemir, Zeynep H.; Doheny, Kimberly F.; Davis, Colleen P.; Lek, Monkol; Wellington, Christopher; Jhangiani, Shalini N.; Gerstein, Mark; Gibbs, Richard A.; Lifton, Richard P.; MacArthur, Daniel G.; Matise, Tara C.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Mane, Shrikant; Nickerson, Deborah A.; Adams, Marcia; Aguet, François; Akay, Gulsen; Anderson, Peter; Antonescu, Corina; Arachchi, Harindra M.; Atik, Mehmed M.; Austin-Tse, Christina A.; Babb, Larry; Bacus, Tamara J.; Bahrambeigi, Vahid; Balasubramanian, Suganthi; Bayram, Yavuz; Beaudet, Arthur L.; Beck, Christine R.; Belmont, John W.; Below, Jennifer E.; Bilguvar, Kaya; Boehm, Corinne D.; Boerwinkle, Eric; Boone, Philip M.; Bowne, Sara J.; Brand, Harrison; Buckingham, Kati J.; Byrne, Alicia B.; Calame, Daniel; Campbell, Ian M.; Cao, Xiaolong; Carvalho, Claudia; Chander, Varuna; Chang, Jaime; Chao, Katherine R.; Chinn, Ivan K.; Clarke, Declan; Collins, Ryan L.; Cummings, Beryl; Dardas, Zain; Dawood, Moez; Delano, Kayla; DiTroia, Stephanie P.; Doddapaneni, Harshavardhan; Du, Haowei; Du, Renqian; Duan, Ruizhi; Eldomery, Mohammad; Eng, Christine M.; England, Eleina; Evangelista, Emily; Everett, Selin; Fatih, Jawid; Felsenfeld, Adam; Francioli, Laurent C.; Frazar, Christian D.; Fu, Jack; Gamarra, Emmanuel; Gambin, Tomasz; Gan, Weiniu; Gandhi, Mira; Ganesh, Vijay S.; Garimella, Kiran V.; Gauthier, Laura D.; Giroux, Danielle; Gonzaga-Jauregui, Claudia; Goodrich, Julia K.; Gordon, William W.; Griffith, Sean; Grochowski, Christopher M.; Gu, Shen; Gudmundsson, Sanna; Hall, Stacey J.; Hansen, Adam; Harel, Tamar; Harmanci, Arif O.; Herman, Isabella; Hetrick, Kurt; Hijazi, Hadia; Horike-Pyne, Martha; Hsu, Elvin; Hu, Jianhong; Huang, Yongqing; Hurless, Jameson R.; Jahl, Steve; Jarvik, Gail P.; Jiang, Yunyun; Johanson, Eric; Jolly, Angad; Karaca, Ender; Khayat, Michael; Knight, James; Kolar, J. Thomas; Kumar, Sushant; Lalani, Seema; Laricchia, Kristen M.; Larkin, Kathryn E.; Leal, Suzanne M.; Lemire, Gabrielle; Lewis, Richard A.; Li, He; Ling, Hua; Lipson, Rachel B.; Liu, Pengfei; Lovgren, Alysia Kern; López-Giráldez, Francesc; MacMillan, Melissa P.; Mangilog, Brian E.; Mano, Stacy; Marafi, Dana; Marosy, Beth; Marshall, Jamie L.; Martin, Renan; Marvin, Colby T.; Mawhinney, Michelle; McGee, Sean; McGoldrick, Daniel J.; Mehaffey, Michelle; Mekonnen, Betselote; Meng, Xiaolu; Mitani, Tadahiro; Miyake, Christina Y.; Mohr, David; Morris, Shaine; Mullen, Thomas E.; Murdock, David R.; Murugan, Mullai; Muzny, Donna M.; Myers, Ben; Neira, Juanita; Nguyen, Kevin K.; Nielsen, Patrick M.; Nudelman, Natalie; O’Heir, Emily; O’Leary, Melanie C.; Ongaco, Chrissie; Orange, Jordan; Osei-Owusu, Ikeoluwa A.; Paine, Ingrid S.; Pais, Lynn S.; Paschall, Justin; Patterson, Karynne; Pehlivan, Davut; Pelle, Benjamin; Penney, Samantha; Perez de Acha Chavez, Jorge; Pierce-Hoffman, Emma; Poli, Cecilia M.; Punetha, Jaya; Radhakrishnan, Aparna; Richardson, Matthew A.; Rodrigues, Eliete; Roote, Gwendolin T.; Rosenfeld, Jill A.; Ryke, Erica L.; Sabo, Aniko; Sanchez, Alice; Schrauwen, Isabelle; Scott, Daryl A.; Sedlazeck, Fritz; Serrano, Jillian; Shaw, Chad A.; Shelford, Tameka; Shively, Kathryn M.; Singer-Berk, Moriel; Smith, Joshua D.; Snow, Hana; Snyder, Grace; Solomonson, Matthew; Son, Rachel G.; Song, Xiaofei; Stankiewicz, Pawel; Stephan, Taylorlyn; Sutton, V. Reid; Sveden, Abigail; Sánchez, Diana Cornejo; Tackett, Monica; Talkowski, Michael; Threlkeld, Machiko S.; Tiao, Grace; Udler, Miriam S.; Vail, Laura; Valivullah, Zaheer; Valkanas, Elise; VanNoy, Grace E.; Wang, Qingbo S.; Wang, Gao; Wang, Lu; Wangler, Michael F.; Watts, Nicholas A.; Weisburd, Ben; Weiss, Jeffrey M.; Wheeler, Marsha M.; White, Janson J.; Williamson, Clara E.; Wilson, Michael W.; Wiszniewski, Wojciech; Withers, Marjorie A.; Witmer, Dane; Witzgall, Lauren; Wohler, Elizabeth; Wojcik, Monica H.; Wong, Isaac; Wood, Jordan C.; Wu, Nan; Xing, Jinchuan; Yang, Yaping; Yi, Qian; Yuan, Bo; Zeiger, Jordan E.; Zhang, Chaofan; Zhang, Peng; Zhang, Yan; Zhang, Xiaohong; Zhang, Yeting; Zhang, Shifa; Zoghbi, Huda; van den Veyver, Igna; Rehm, Heidi L.; O’Donnell-Luria, Anne
Genetics in Medicine; 20220101, Issue: Preprints
Academic Journal
Dawood, Moez; Akay, Gulsen; Mitani, Tadahiro; Fatih, Jawid M.; Punetha, Jaya; Marafi, Dana; Grochowski, Christopher M.; Du, Haowei; Jolly, Angad; Coban-Akdemir, Zeynep; Jhangiani, Shalini N.; Hunter, Jill V.; Pehlivan, Davut; Posey, Jennifer E.; Carvalho, Claudia M. B.; Gibbs, Richard A.; Lupski, James R.
Academic Journal
Kumble, Smitha; Levy, Amanda M.; Garcia-Minaur, Sixto; Gao, Hua; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Parikh, Sumit; Ritter, Alyssa L.; Izumi, Kosuke; Hoffman, Trevor L.; Oppermann, Henry; Bjerglund, Lise; Rosenfeld, Jill A.; Curry, Cynthia; Faivre, Laurence; Leiber, Anja; Robinson, Scott; Finkel, Richard S.; Gerard, Amanda; Cohen, Julie S.; Xie, Yili; Mullegama, Sureni V.; Platzer, Konrad; Sacoto, Maria J. Guillen; Revah-Politi, Anya; Berger, Sara M.; Comi, Anne M.; Anyane-Yeboa, Kwame; Fievet, Alice; Mintz, Cassie S.; Lozano, Reymundo; Posey, Jennifer E.; Ciliberto, Michael; Howard, Lillian; Benke, Paul; Odent, Sylvie; Denomme-Pichon, Anne-Sophie; Weber, Mathys; Mew, Nicholas Ah; Ostergaard, Elsebet; Iglesias, Alejandro D.; Punetha, Jaya; Chung, Wendy K.; Brown, Natasha; Tumer, Zeynep
Academic Journal
Oates, Emily C.; Jones, Kristi J.; Donkervoort, Sandra; Charlton, Amanda; Brammah, Susan; Smith, John E.; Ware, James S.; Yau, Kyle S.; Swanson, Lindsay C.; Whiffin, Nicola; Peduto, Anthony J.; Bournazos, Adam; Waddell, Leigh B.; Farrar, Michelle A.; Sampaio, Hugo A.; Teoh, Hooi Ling; Lamont, Phillipa J.; Mowat, David; Fitzsimons, Robin B.; Corbett, Alastair J.; Ryan, Monique M.; O'Grady, Gina L.; Sandaradura, Sarah A.; Ghaoui, Roula; Joshi, Himanshu; Marshall, Jamie L.; Nolan, Melinda A.; Kaur, Simranpreet; Punetha, Jaya; Toepf, Ana; Harris, Elizabeth; Bakshi, Madhura; Genetti, Casie A.; Marttila, Minttu; Werlauff, Ulla; Streichenberger, Nathalie; Pestronk, Alan; Mazanti, Ingrid; Pinner, Jason R.; Vuillerot, Carole; Grosmann, Carla; Camacho, Ana; Mohassel, Payam; Leach, Meganne E.; Foley, A. Reghan; Bharucha-Goebel, Diana; Collins, James; Connolly, Anne M.; Gilbreath, Heather R.; Iannaccone, Susan T.; Castro, Diana; Cummings, Beryl B.; Webster, Richard I.; Lazaro, Leila; Vissing, John; Coppens, Sandra; Deconinck, Nicolas; Luk, Ho-Ming; Thomas, Neil H.; Foulds, Nicola C.; Illingworth, Marjorie A.; Ellard, Sian; McLean, Catriona A.; Phadke, Rahul; Ravenscroft, Gianina; Witting, Nanna; Hackman, Peter; Richard, Isabelle; Cooper, Sandra T.; Kamsteeg, Erik-Jan; Hoffman, Eric P.; Bushby, Kate; Straub, Volker; Udd, Bjarne; Ferreiro, Ana; North, Kathryn N.; Clarke, Nigel F.; Lek, Monkol; Beggs, Alan H.; Boennemann, Carsten G.; MacArthur, Daniel G.; Granzier, Henk; Davis, Mark R.; Laing, Nigel G.
Academic Journal
Aptekar, Leslie; Lagoe, Erin Caine; Shaw, Jay; Sotile, Caroline; Ilg, Daniel; Van den Berg, Saskia; Jiang, Yanjun; Punetha, Jaya; Webb, Bryn; Shi, Lisong; Kornreich, Ruth; Zimmerman, Rebekah; Edelmann, Lisa
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[AR] Punetha, Jaya
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