학술논문
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'학술논문'
에서 검색결과 61건 | 목록
1~20
Academic Journal
Watson, Deborah J. ; Saeidian, Amir Hossein ; Wang, Xiang ; Harr, Margaret H. ; Liu, Yichuan ; Li, Yun Rose ; Terek, Shannon ; de Barcelos, Isabella Peixoto ; Nesbitt, Addie ; Nguyen, Kenny ; Chang, Xiao ; Connolly, John ; Hou, Cuiping ; Slaby, Isabella ; Wang, Fengxiang ; Snyder, James ; Qiu, Haijun ; Qu, Huiqi ; March, Michael E. ; Zhao, Xiaonan ; Mentch, Frank ; Sleiman, Patrick ; Glessner, Joseph ; Hakonarson, Hakon
In Genetics in Medicine Open 2026 4
Academic Journal
Rasmussen-Torvik, Laura J. ; Bonini, Katherine E. ; Harr, Margaret H. ; Abbass, Mohammad Ali ; Bangash, Hana ; Bland, Harris T. ; Boyd, Brenna M. ; Chung, Wendy K. ; Clayton, Ellen W. ; Cohen, Stuart J. ; Connolly, John J. ; Gascoigne, Catherine ; Hernandez, Valentina ; Holm, Ingrid A. ; Horike-Pyne, Martha ; Jarvik, Gail P. ; Karlson, Elizabeth W. ; Kullo, Iftikhar J. ; Limdi, Nita A. ; Maradik, Mary E. ; McNally, Elizabeth M. ; Perez, Emma ; Prows, Cynthia A. ; Shaibi, Gabriel Q. ; Weng, Chunhua ; Rowley, Robb K. ; Peterson, Josh F. ; Linder, Jodell E. ; Sabatello, Maya
In Genetics in Medicine August 2025 27(8)
Academic Journal
Aliazami, Farnoush; Ribeiro Carneiro, Thaise Nayane; Akbarzadeh, Mahdi; Kazemioula, Golnesa; Saeidian, Amir Hesam; Palizban, Fahimeh; Biglari, Sajjad; Coleman, David; Snyder, James; Wang, Fengxiang; Billings, Jonathan; Terek, Shannon; Mentch, Frank; Regan-Fendt, Kelly; Tsoi, Lam C.; Dorrani, Naghmeh; Saeidian, Amir Hossein ; March, Michael E. ; Youssefian, Leila ; Watson, Deborah J. ; Bhandari, Esha ; Wang, Xiang ; Zhao, Xiaonan ; Owen, Nichole Marie ; Strong, Alanna ; Harr, Margaret H. ; Bhoj, Elizabeth ; Zackai, Elaine ; Vahidnezhad, Hassan ; Gudjonsson, Johann E. ; Cederbaum, Stephen D. ; Deignan, Joshua L. ; Glessner, Joseph ; Grody, Wayne W. ; Hakonarson, Hakon
In Genetics in Medicine November 2024 26(11)
Academic Journal
Leppig, Kathleen A. ; Kulchak Rahm, Alanna ; Appelbaum, Paul ; Aufox, Sharon ; Bland, Harris T. ; Buchanan, Adam ; Christensen, Kurt D. ; Chung, Wendy K. ; Clayton, Ellen Wright ; Crosslin, David ; Denny, Josh ; DeVange, Shannon ; Gordon, Adam ; Green, Robert C. ; Hakonarson, Hakon ; Harr, Margaret H. ; Henrikson, Nora ; Hoell, Christin ; Holm, Ingrid A. ; Kullo, Iftikhar J. ; Jarvik, Gail P. ; Lammers, Philip E. ; Larson, Eric B. ; Lindor, Noralane M. ; Marasa, Maddalena ; Myers, Melanie F. ; Perez, Emma ; Peterson, Josh F. ; Pratap, Siddharth ; Prows, Cynthia A. ; Ralston, James D. ; Rasouly, Hila Milo ; Roden, Dan M. ; Sharp, Richard R. ; Singh, Rajbir ; Shaibi, Gabriel ; Smith, Maureen E. ; Sturm, Amy ; Thiese, Heidi A. ; Van Driest, Sara L. ; Williams, Janet ; Williams, Marc S. ; Wynn, Julia ; Blout Zawatsky, Carrie L. ; Wiesner, Georgia L.
In Genetics in Medicine May 2022 24(5):1130-1138
Academic Journal
Johnston, Jennifer J. ; van der Smagt, Jasper J. ; Rosenfeld, Jill A. ; Pagnamenta, Alistair T. ; Alswaid, Abdulrahman ; Baker, Eva H. ; Blair, Edward ; Borck, Guntram ; Brinkmann, Julia ; Craigen, William ; Dung, Vu Chi ; Emrick, Lisa ; Everman, David B. ; van Gassen, Koen L. ; Gulsuner, Suleyman ; Harr, Margaret H. ; Jain, Mahim ; Kuechler, Alma ; Leppig, Kathleen A. ; McDonald-McGinn, Donna M. ; Can, Ngoc Thi Bich ; Peleg, Amir ; Roeder, Elizabeth R. ; Rogers, R.Curtis ; Sagi-Dain, Lena ; Sapp, Julie C. ; Schäffer, Alejandro A. ; Schanze, Denny ; Stewart, Helen ; Taylor, Jenny C. ; Verbeek, Nienke E. ; Walkiewicz, Magdalena A. ; Zackai, Elaine H. ; Zweier, Christiane ; Zenker, Martin ; Lee, Brendan ; Biesecker, Leslie G.
In Genetics in Medicine October 2018 20(10):1175-1185
Academic Journal
Connolly, John J. ; Hess, Molly ; Maripuri, Priyanka ; Terek, Shannon ; Purcell, Jasmine ; Harr, Margaret H. ; Mentch, Frank D. ; Glessner, Joseph T. ; Shah, Rachana ; Prows, Cindy A. ; Karavite, Dean J. ; Thayer, Jeritt G. ; Grundmeier, Robert W. ; Hakonarson, Hakon
In Genetics in Medicine March 2025 27(3)
Academic Journal
Bedeschi, Maria Francesca ; Marangi, Giuseppe ; Calvello, Maria Rosaria ; Ricciardi, Stefania ; Leone, Francesca Pia Chiara ; Baccarin, Marco ; Guerneri, Silvana ; Orteschi, Daniela ; Murdolo, Marina ; Lattante, Serena ; Frangella, Silvia ; Keena, Beth ; Harr, Margaret H. ; Zackai, Elaine ; Zollino, Marcella
In European Journal of Medical Genetics November 2017 60(11):565-571
Academic Journal
Landrum, Kevin M.; Qu, Hui-Qi; Harr, Margaret H.; Yellin, Joseph L.; Morgan, Syreeta; Hakonarson, Hakon; Ganley, Theodore
Academic Journal
Nair, Divya; Li, Dong; Erdogan, Hannah; Yoon, Andrew; Harr, Margaret H.; Bergant, Gaber; Peterlin, Borut; Pušenjak, Maruša Škrjanec; Jayakar, Parul; Pfundt, Rolph; Jansen, Sandra; McWalter, Kirsty; Sidhu, Alpa; Saliganan, Sheila; Agolini, Emanuele; Jacob, Arthur; Pasquier, Jennifer; Arash, Rafii; Kahrizi, Kimia; Najmabadi, Hossein; Ropers, Hans-Hilger; Bhoj, Elizabeth J.
In Human Genetics and Genomics Advances 13 October 2022 3(4)
Academic Journal
Nair, Divya ; Li, Dong ; Erdogan, Hannah ; Yoon, Andrew ; Harr, Margaret H. ; Bergant, Gaber ; Peterlin, Borut ; Škrjanec Pušenjak, Maruša ; Jayakar, Parul ; Pfundt, Rolph ; Jansen, Sandra ; McWalter, Kirsty ; Sidhu, Alpa ; Saliganan, Sheila ; Agolini, Emanuele ; Jacob, Arthur ; Pasquier, Jennifer ; Arash, Rafii ; Kahrizi, Kimia ; Najmabadi, Hossein ; Ropers, Hans-Hilger ; Bhoj, Elizabeth J.
In Human Genetics and Genomics Advances 8 April 2021 2(2)
Academic Journal
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; Espana-Bonilla, Paula; Lee, Chul-Hwan; Zhang, Shuo; Padilla, Natàlia; Fueyo, Raquel; Waxman, Elisa A.; Lei, Sunyimeng; Otrimski, Garrett; Li, Dong; Sheppard, Sarah E.; Mark, Paul; Harr, Margaret H.; Hakonarson, Hakon; Rodan, Lance; Jackson, Adam; Vasudevan, Pradeep
Nature Communications; 7/11/2023, Vol. 14 Issue 1, p1-18, 18p
Academic Journal
Xia, Fan ; Bainbridge, Matthew N. ; Tan, Tiong Yang ; Wangler, Michael F. ; Scheuerle, Angela E. ; Zackai, Elaine H. ; Harr, Margaret H. ; Sutton, V. Reid ; Nalam, Roopa L. ; Zhu, Wenmiao ; Nash, Margot ; Ryan, Monique M. ; Yaplito-Lee, Joy ; Hunter, Jill V. ; Deardorff, Matthew A. ; Penney, Samantha J. ; Beaudet, Arthur L. ; Plon, Sharon E. ; Boerwinkle, Eric A. ; Lupski, James R. ; Eng, Christine M. ; Muzny, Donna M. ; Yang, Yaping ; Gibbs, Richard A.
In The American Journal of Human Genetics 1 May 2014 94(5):784-789
Academic Journal
Blumling, Amy A.; Prows, Cynthia A.; Harr, Margaret H.; Chung, Wendy K.; Clayton, Ellen Wright; Holm, Ingrid A.; Wiesner, Georgia L.; Connolly, John J.; Harley, John B.; Hakonarson, Hakon; McGowan, Michelle L.; Miller, Erin M.; Myers, Melanie F.
Academic Journal
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del; Jones, Marilyn C.; Abdul‐Rahman, Omar; Alkuraya, Fowzan S.
American Journal of Medical Genetics. Part A; Jun2021, Vol. 185 Issue 6, p1649-1665, 17p
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
Academic Journal
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; Jhangiani, Shalini N.; Isidor, Bertrand; Littlejohn, Rebecca O.; Liu, Pengfei; Magoulas, Pilar
Human Mutation; Mar2020, Vol. 41 Issue 3, p641-654, 14p
Academic Journal
Wenger, Tara; Li, Dong; Harr, Margaret H.; Tan, Wen‐Hann; Pellegrino, Renata; Stark, Zornitza; Hakonarson, Hakon; Bhoj, Elizabeth J.
American Journal of Medical Genetics Part A. Jan 01, 2018 176(1):75-81
Academic Journal
Luo, Minjie; Fan, Jinbo; Wenger, Tara L.; Harr, Margaret H.; Racobaldo, Melissa; Mulchandani, Surabhi; Dubbs, Holly; Zackai, Elaine H.; Spinner, Nancy B.; Conlin, Laura K.
American Journal of Medical Genetics. Part A; Aug2017, Vol. 173 Issue 8, p2101-2107, 7p
Academic Journal
Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H.; Hudson, Cindy; Hunter, Alasdair G.W.; Johnson, John; Joss, Shelagh K.; Kimball, Amy; Kini, Usha; Kline, Antonie D.; Lauzon, Julie; Lildballe, Dorte L.; López-González, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M.; Morel, Chantal F.; Morton, Jenny E.V.; Pyle, Louise C.; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E.; Schönewolf-Greulich, Bitten; Shears, Deborah J.; Silver, Josh; Smith, Amanda C.; Temple, Karen I.; van de Kamp, Jiddeke M.; van Dijk, Fleur S.; Vandersteen, Anthony M.; White, Sue M.; Zackai, Elaine H.; Zou, Ruobing; Consortium, Care4Rare Canada; Bulman, Dennis E.; Boycott, Kym M.; Lines, Matthew A.
Human Mutation. Feb 01, 2016 37(2):148-154
Academic Journal
Bhoj, Elizabeth J.; Li, Dong; Harr, Margaret H.; Tian, Lifeng; Wang, Tiancheng; Zhao, Yan; Qiu, Haijun; Kim, Cecilia; Hoffman, Jodi D.; Hakonarson, Hakon; Zackai, Elaine H.
American Journal Of Medical Genetics - A. Nov 01, 2015 167(11):2497-2502
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[AR] Harr, Margaret H.
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