학술논문
'학술논문'
에서 검색결과 38건 | 목록
1~10
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
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
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
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; Powel, Corrina; Mohammed, Shehla; Maddirevula, Sateesh; Alzaidan, Hamad; Faqeih, Eissa A.; Efthymiou, Stephanie; Turchetti, Valentina; Rahman, Fatima; Maqbool, Shazia; Salpietro, Vincenzo; Ibrahim, Shahnaz H.; di Rosa, Gabriella; Houlden, Henry; Alharbi, Maha Nasser; Al-Sannaa, Nouriya Abbas; Bauer, Peter; Zifarelli, Giovanni; Estaras, Conchi; Hurst, Anna C. E.; Thompson, Michelle L.; Chassevent, Anna; Smith-Hicks, Constance L.; de la Cruz, Xavier; Holtz, Alexander M.; Elloumi, Houda Zghal; Hajianpour, M J; Rieubland, Claudine; Braun, Dominique; Banka, Siddharth; French, Deborah L.; Heller, Elizabeth A.; Saade, Murielle; Song, Hongjun; Ming, Guo-li; Alkuraya, Fowzan S.; Agrawal, Pankaj B.; Reinberg, Danny; Bhoj, Elizabeth J.; Martínez-Balbás, Marian A.; Akizu, Naiara
Nature Communications. 14(1)
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
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
Wiesner, Georgia L.; Rahm, Alanna Kulchak; Appelbaum, Paul; Aufox, Sharon; Bland, Sarah T.; Blout, Carrie L.; Christensen, Kurt D.; Chung, Wendy K.; Clayton, Ellen Wright; Green, Robert C.; Harr, Margaret H.; Henrikson, Nora; Hoell, Christin; Holm, Ingrid A.; Jarvik, Gail P.; Kullo, Iftikhar J.; Lammers, Philip E.; Larson, Eric B.; Lindor, Noralane M.; Marasa, Maddalena; Myers, Melanie F.; Peterson, Josh F.; Prows, Cynthia A.; Ralston, James D.; Rasouly, Hila Milo; Sharp, Richard R.; Smith, Maureen E.; Van Driest, Sara L.; Williams, Janet L.; Williams, Marc S.; Wynn, Julia; Leppig, Kathleen A.
Academic Journal
Batzir, Nurit Assia; Bhagwat, Pranjali Kishor; Larson, Austin; Akdemir, Zeynep Coban; Baglaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Colon, Yazmin Enchautegui; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; Jhangiani, Shalini N.; Isidor, Bertrand; Littlejohn, Rebecca O.; Liu, Pengfei; Magoulas, Pilar; Fan, Helen Mar; Marom, Ronit; McLean, Scott; Nezarati, Marjan M.; Nugent, Kimberly M.; Petersen, Michael B.; Rocha, Maria L.; Roeder, Elizabeth; Smigiel, Robert; Tully, Ian; Weisfeld-Adams, James; Wells, Katerina O.; Posey, Jennifer E.; Lupski, James R.; Beaudet, Arthur L.; Wangler, Michael F.; Baylor-Hopkins Ctr Mendelian Genom
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[AR] Harr, Margaret H.
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