학술논문
'학술논문'
에서 검색결과 141건 | 목록
1~10
Academic Journal
Boonsawat, Paranchai; Asadollahi, Reza; Niedrist, Dunja; Steindl, Katharina; Begemann, Anaïs; Joset, Pascal; Bhoj, Elizabeth J.; Li, Dong; Zackai, Elaine; Vetro, Annalisa; Barba, Carmen; Guerrini, Renzo; Whalen, Sandra; Keren, Boris; Khan, Amjad; Jing, Duan; Palomares Bralo, María; Rikeros Orozco, Emi; Hao, Qin; Schlott Kristiansen, Britta; Zheng, Bixia; Donnelly, Deirdre; Clowes, Virginia; Zweier, Markus; Papik, Michael; Siegel, Gabriele; Sabatino, Valeria; Mocera, Martina; Horn, Anselm H.C.; Sticht, Heinrich; Rauch, Anita
In The American Journal of Human Genetics 5 September 2024 111(9):1994-2011
Academic Journal
Priestley, Jessica R.C.; Deshwar, Ashish R.; Murthy, Harsha; D’Agostino, Maria D.; Dupuis, Lucie; Gangaram, Balram; Gray, Christopher; Jobling, Rebekah; Pannia, Emanuela; Platzer, Konrad; Prescott, Katrina; Redman, Melody; Rippert, Alyssa L.; Rosenfeld, Jill A.; Scott, Daryl A.; Wang, Yi W.; Schmederer, Zelia; Dalal, Ashwin; Sarma, Asodu S.; Skraban, Cara; Dowling, James.J.; Mendoza-Londono, Roberto; Slavotinek, Anne; Bhoj, Elizabeth J.
In Genetics in Medicine August 2023 25(8)
Academic Journal
In European Journal of Medical Genetics June 2020 63(6)
Academic Journal
Bhoj, Elizabeth J.; Haye, Damien; Toutain, Annick; Bonneau, Dominique; Nielsen, Irene Kibæk; Lund, Ida Bay; Bogaard, Pauline; Leenskjold, Stine; Karaer, Kadri; Wild, Katherine T.; Grand, Katheryn L.; Astiazaran, Mirena C.; Gonzalez-Nieto, Luis A.; Carvalho, Ana; Lehalle, Daphné; Amudhavalli, Shivarajan M.; Repnikova, Elena; Saunders, Carol; Thiffault, Isabelle; Saadi, Irfan; Li, Dong; Hakonarson, Hakon; Vial, Yoann; Zackai, Elaine; Callier, Patrick; Drunat, Séverine; Verloes, Alain
In European Journal of Medical Genetics December 2019 62(12)
Academic Journal
Sobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjærsgaard; Adler, Élodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Chun-Hui Tsai, Anne; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J.
In Human Genetics and Genomics Advances 12 January 2023 4(1)
Academic Journal
Sisroe, Talia; Santos, Attila Dos; Rippert, Alyssa L.; Gray, Christopher; Skraban, Cara M.; Nelson, Beverly; Tefft, Sarah; Helbig, Ingo; Li, Dong; Bhoj, Elizabeth J.; Sobering, Andrew K.
Academic Journal
Royer-Bertrand, Beryl; Jequier Gygax, Marine; Cisarova, Katarina; Rosenfeld, Jill A.; Bassetti, Jennifer A.; Moldovan, Oana; O'Heir, Emily; Burrage, Lindsay C.; Allen, Jake; Emrick, Lisa T.; Eastman, Emma; Kumps, Camille; Abbas, Safdar; Van Winckel, Geraldine; Chabane, Nadia; Zackai, Elaine H.; Lebon, Sebastien; Keena, Beth; Bhoj, Elizabeth J.; Umair, Muhammad
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
Matalon, Dena R.; Bhoj, Elizabeth J.; Li, Dong; McDougall, Carey; Schindewolf, Erica; Khalek, Nahla; Wilkens, Alisha; McManus, Morgan; Deardorff, Matthew A.; Zackai, Elaine H.
American Journal of Medical Genetics. Part A; Apr2023, Vol. 191 Issue 4, p977-982, 6p
Academic Journal
Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon
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[AR] Bhoj, Elizabeth J.
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