학술논문
'학술논문'
에서 검색결과 200건 | 목록
1~10
Academic Journal
Tsuchiya, Karen D.; Funke, Birgit; Hegde, Madhuri; Santani, Avni; Souers, Rhona J.; Szelinger, Szabolcs; Halley, Jaimie; Zhao, Qin; Mot, Nicole; Roy, Angshumoy; Smith, Vanessa L.; Zhang, Bing M.; Voelkerding, Karl; Moyer, Ann M.
Archives of Pathology & Laboratory Medicine. July, 2024, Vol. 148 Issue 7, p775, 9 p.
Academic Journal
SoRelle, Jeffrey A.; Funke, Birgit H.; Eno, Celeste C.; Ji, Jianling; Santani, Avni; Bayrak-Toydemir, Pinar; Wachsmann, Megan; Wain, Karen E.; Mao, Rong
The Journal of Molecular Diagnostics. 26(3):159-167
Academic Journal
Hu, Jianhong; Korchina, Viktoriya; Zouk, Hana; Harden, Maegan V.; Murdock, David; Macbeth, Alyssa; Harrison, Steven M.; Lennon, Niall; Kovar, Christie; Balasubramanian, Adithya; Zhang, Lan; Chandanavelli, Gauthami; Pasham, Divya; Rowley, Robb; Wiley, Ken; Smith, Maureen E.; Gordon, Adam; Jarvik, Gail P.; Sleiman, Patrick; Kelly, Melissa A.; Bland, Harris T.; Murugan, Mullai; Venner, Eric; Boerwinkle, Eric; Abrams, Debra J.; Adunyah, Samuel E.; Albertson-Junkans, Ladia H.; Almoguera, Berta; Appelbaum, Paul S.; Aronson, Samuel; Aufox, Sharon; Babb, Lawrence J.; Bangash, Hana; Basford, Melissa A.; Behr, Meckenzie; Benoit, Barbara; Bhoj, Elizabeth J.; Bland, Sarah T.; Borthwick, Kenneth M.; Bottinger, Erwin P.; Bowen, Deborah J.; Bowser, Mark; Brilliant, Murray; Buchanan, Adam H.; Cagan, Andrew; Caraballo, Pedro J.; Carey, David J.; Carrell, David S.; Castro, Victor M.; Chisholm, Rex L.; Chung, Wendy; Chute, Christopher G.; City, Brittany B.; Clayton, Ellen Wright; Cobb, Beth L.; Connolly, John J.; Crane, Paul K.; Crew, Katherine D.; Crosslin, David R.; da Silva, Renata P.; Dayal, Jyoti G.; De Andrade, Mariza; Denny, Josh C.; Dikilitas, Ozan; DiVietro, Alanna J.; Dufendach, Kevin R.; Edwards, Todd L.; Eng, Christine; Fasel, David; Fedotov, Alex; Fullerton, Stephanie M.; Funke, Birgit; Gabriel, Stacey; Gainer, Vivian S.; Gharavi, Ali; Glessner, Joe T.; Goehringer, Jessica M.; Gordon, Adam S.; Graham, Chet; Hain, Heather S.; Hakonarson, Hakon; Harley, John; Harr, Margaret; Hartzler, Andrea L.; Hebbring, Scott; Hellwege, Jacklyn N.; Henrikson, Nora B.; Hoell, Christin; Holm, Ingrid; Hripcsak, George; Hsieh, Alexander L.; Hynes, Elizabeth D.; Johnson, Darren K.; Jones, Laney K.; Joo, Yoonjung Y.; Jose, Sheethal; Josyula, Navya Shilpa; Justice, Anne E.; Karlson, Elizabeth W.; Kaufman, Kenneth M.; Keaton, Jacob M.; Kenny, Eimear E.; Key, Dustin L.; Khan, Atlas; Kirchner, H. Lester; Kiryluk, Krzysztof; Kitchner, Terrie; Klanderman, Barbara J.; Kochan, David C.; Kudalkar, Emily; Kuhn, Benjamin R.; Kullo, Iftikhar J.; Lammers, Philip; Larson, Eric B.; Lebo, Matthew S.; Lee, Ming Ta Michael; Leppig, Kathleen A.; Lin, Chiao-Feng; Linder, Jodell E.; Lindor, Noralane M.; Lingren, Todd; Liu, Cong; Luo, Yuan; Lynch, John; Malin, Bradley A.; Mapes, Brandy M.; Marasa, Maddalena; Marsolo, Keith; McNally, Elizabeth; Mentch, Frank D.; Miller, Erin M.; Rasouly, Hila Milo; Murphy, Shawn N.; Myers, Melanie F.; Namjou, Bahram; Nesbitt, Addie I.; Nestor, Jordan; Ni, Yizhao; Olson, Janet E.; Obeng, Aniwaa Owusu; Pacheco, Jennifer A.; Pacyna, Joel E.; Person, Thomas N.; Peterson, Josh F.; Petukhova, Lynn; Pisieczko, Cassandra; Pratap, Siddharth; Puckelwartz, Megan J.; Rahm, Alanna K.; Ralston, James D.; Ramaprasan, Arvind; Rasmussen, Luke V.; Rasmussen-Torvik, Laura J.; Roden, Dan M.; Rosenthal, Elisabeth A.; Safarova, Maya S.; Santani, Avni; Savatt, Juliann M.; Schaid, Daniel J.; Scherer, Steven; Schultz, Baergen I.; Scrol, Aaron; Sengupta, Soumitra; Shaibi, Gabriel Q.; Shang, Ning; Sharma, Himanshu; Sharp, Richard R.; Shen, Yufeng; Singh, Rajbir; Smoller, Jordan W.; Smoot, Duane T.; Stanaway, Ian B.; Starren, Justin; Stone, Timoethia M.; Sturm, Amy C.; Sundaresan, Agnes S.; Tarczy-Hornoch, Peter; Taylor, Casey Overby; Tian, Lifeng; Van Driest, Sara L.; Varugheese, Matthew; Vazquez, Lyam; Veenstra, David L.; Velez Edwards, Digna R.; Verbitsky, Miguel; Walker, Kimberly; Walton, Nephi; Walunas, Theresa; Wehbe, Firas H.; Wei, Wei-Qi; Weiss, Scott T.; Wells, Quinn S.; Weng, Chunhua; Williams, Marc S.; Williams, Janet; Witkowski, Leora; Woods, Laura Allison B.; Wynn, Julia; Zhang, Yanfei; Jackson, Jodell
BMC Research Notes. March 3, 2024, Vol. 17 Issue 1
Academic Journal
Crooks, Kristy R.; Farwell Hagman, Kelly D.; Mandelker, Diana; Santani, Avni; Schmidt, Ryan J.; Temple-Smolkin, Robyn L.; Lincoln, Stephen E.
The Journal of Molecular Diagnostics. 25(7):411-427
Academic Journal
Genetics in Medicine Open.
Academic Journal
Bard, Angela M.; Clark, Lindsay V.; Cosgun, Erdal; Aldinger, Kimberly A.; Timms, Andrew; Quina, Lely A.; Ferres, Juan M. Lavista; Jardine, David; Haas, Elisabeth A.; Becker, Tatiana M.; Pagan, Chelsea M.; Santani, Avni; Martinez, Diego; Barua, Soumitra; Mcnutt, Zakkary; Nesbitt, Addie; Mitchell, Edwin A.; Ramirez, Jan-Marino
Academic Journal
Schanze, Ina; Bunt, Jens; Lim, Jonathan WC; Schanze, Denny; Dean, Ryan J; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J; Cho, Megan T; Dobyns, William B; Donnai, Dian; Douglas, Jessica; Earl, Dawn L; Edwards, Timothy J; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M; Morgan, Sian M; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T; Puechberty, Jacques; Reinstein, Eyal; Rivière, Jean-Baptiste; Santani, Avni B; Schneider, Anouck; Sherr, Elliott H; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M; Zenker, Martin; Richards, Linda J
American Journal of Human Genetics. 103(5)
Academic Journal
Murrell, Jill R.; Nesbitt, Addie May I.; Baker, Samuel W.; Pechter, Kieran B.; Balciuniene, Jorune; Zhao, Xiaonan; Denenberg, Elizabeth H.; DeChene, Elizabeth T.; Wu, Chao; Jayaraman, Pushkala; Cao, Kajia; Gonzalez, Michael; Devoto, Marcella; Testori, Alessandro; Monos, John D.; Dulik, Matthew C.; Conlin, Laura K.; Luo, Minjie; McDonald Gibson, Kristin; Guan, Qiaoning; Sarmady, Mahdi; Bhoj, Elizabeth; Helbig, Ingo; Zackai, Elaine H.; Bedoukian, Emma C.; Wilkens, Alisha; Tarpinian, Jennifer; Izumi, Kosuke; Skraban, Cara M.; Deardorff, Matthew A.; Medne, Livija; Krantz, Ian D.; Krock, Bryan L.; Santani, Avni B.
The Journal of Molecular Diagnostics. 24(3):274-286
Academic Journal
Leung, Marco L.; Ji, Jianling; Baker, Samuel; Buchan, Jillian G.; Sivakumaran, Theru A.; Krock, Bryan L.; Hutchins, Rebecca; Bayrak-Toydemir, Pinar; Pfeifer, John; Cremona, Maria Laura; Funke, Birgit; Santani, Avni B.
The Journal of Molecular Diagnostics. 24(2):177-188
Academic Journal
Küry, Sébastien; van Woerden, Geeske M; Besnard, Thomas; Onori, Martina Proietti; Latypova, Xénia; Towne, Meghan C; Cho, Megan T; Prescott, Trine E; Ploeg, Melissa A; Sanders, Stephan; Stessman, Holly AF; Pujol, Aurora; Distel, Ben; Robak, Laurie A; Bernstein, Jonathan A; Denommé-Pichon, Anne-Sophie; Lesca, Gaëtan; Sellars, Elizabeth A; Berg, Jonathan; Carré, Wilfrid; Busk, Øyvind Løvold; van Bon, Bregje WM; Waugh, Jeff L; Deardorff, Matthew; Hoganson, George E; Bosanko, Katherine B; Johnson, Diana S; Dabir, Tabib; Holla, Øystein Lunde; Sarkar, Ajoy; Tveten, Kristian; de Bellescize, Julitta; Braathen, Geir J; Terhal, Paulien A; Grange, Dorothy K; van Haeringen, Arie; Lam, Christina; Mirzaa, Ghayda; Burton, Jennifer; Bhoj, Elizabeth J; Douglas, Jessica; Santani, Avni B; Nesbitt, Addie I; Helbig, Katherine L; Andrews, Marisa V; Begtrup, Amber; Tang, Sha; van Gassen, Koen LI; Juusola, Jane; Foss, Kimberly; Enns, Gregory M; Moog, Ute; Hinderhofer, Katrin; Paramasivam, Nagarajan; Lincoln, Sharyn; Kusako, Brandon H; Lindenbaum, Pierre; Charpentier, Eric; Nowak, Catherine B; Cherot, Elouan; Simonet, Thomas; Ruivenkamp, Claudia AL; Hahn, Sihoun; Brownstein, Catherine A; Xia, Fan; Schmitt, Sébastien; Deb, Wallid; Bonneau, Dominique; Nizon, Mathilde; Quinquis, Delphine; Chelly, Jamel; Rudolf, Gabrielle; Sanlaville, Damien; Parent, Philippe; Gilbert-Dussardier, Brigitte; Toutain, Annick; Sutton, Vernon R; Thies, Jenny; Peart-Vissers, Lisenka ELM; Boisseau, Pierre; Vincent, Marie; Grabrucker, Andreas M; Dubourg, Christèle; Network, Undiagnosed Diseases; Tan, Wen-Hann; Verbeek, Nienke E; Granzow, Martin; Santen, Gijs WE; Shendure, Jay; Isidor, Bertrand; Pasquier, Laurent; Redon, Richard; Yang, Yaping; State, Matthew W; Kleefstra, Tjitske; Cogné, Benjamin; HUGO, GEM; Study, Deciphering Developmental Disorders; Petrovski, Slavé; Retterer, Kyle
American Journal of Human Genetics. 101(5)
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