학술논문
'학술논문'
에서 검색결과 27건 | 목록
1~10
Academic Journal
O'Grady, Lauren; Schrier Vergano, Samantha A.; Hoffman, Trevor L.; Sarco, Dean; Cherny, Sara; Bryant, Emily; Schultz‐Rogers, Laura; Chung, Wendy K.; Sacharow, Stephanie; Immken, Ladonna L.; Holder, Susan; Blackwell, Rebecca R.; Buchanan, Catherine; Yusupov, Roman; Lecoquierre, François; Guerrot, Anne‐Marie; Rodan, Lance; de Vries, Bert B. A.; Kamsteeg, Erik Jan; Santos Simarro, Fernando
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2750-2759, 10p
Periodical
Harris, Holly K.; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S.; Soucy, Aubrie; Genetti, Casie A.; Suslovitch, Victoria; Rodan, Lance H.; Tiller, George E.; Lesca, Gaetan; Gripp, Karen W.; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D.; Turnpenny, Peter D.; Simon, Marleen E.H.; Volker-Touw, Catharina M.L.; Gassen, Koen L.I. van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B.A. de; Immken, LaDonna L.; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L.; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L.; Fannemel, Madeleine; Posey, Jennifer E.; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R.; Larsen, Martin J.; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K.; Walsh, Laurence E.; Aldinger, Kimberly A.; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P.; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Guiseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B.; Cohen, Lilian L.; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B.; Beggs, Alan H.; Yu, Timothy W.
Genetics in Medicine; June 2021, Vol. 23 Issue: 6 p1028-1040, 13p
Academic Journal
Shinawi, Marwan; Schaaf, Christian P.; Bhatt, Samarth S.; Zhilian Xia; Patel, Ankita; Sau Wai Cheung; Lanpher, Brendan; Nagl, Sandra; Herding, Heinrich Stephan; Nevinny-Stickel, Claudia; Immken, LaDonna L.; Patel, Gayle Simpson; German, Jennifer Ruth; Beaudet, Arthur L.; Stankiewicz, Pawel
Periodical
Emrick, Lisa T.; Rosenfeld, Jill A.; Lalani, Seema R.; Jain, Mahim; Desai, Nilesh K.; Larson, Austin; Kripps, Kimberly; Vanderver, Adeline; Taft, Ryan J.; Bluske, Krista; Perry, Denise; Nagakura, Honey; Immken, LaDonna L.; Burrage, Lindsay C.; Bacino, Carlos A.; Belmont, John W.; Lee, Brendan
Genetics in Medicine; July 2019, Vol. 21 Issue: 7 p1652-1656, 5p
Academic Journal
Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand
Academic Journal
Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand
Academic Journal
Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher; Lehmann, Andrea; Cogné, Benjamin; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Bézieau, Stéphane; Hazart, Isabelle; Nagakura, Honey; Immken, LaDonna L.; Littlejohn, Rebecca O.; Roeder, Elizabeth
Academic Journal
Emrick, Lisa T.; Rosenfeld, Jill A.; Lalani, Seema R.; Jain, Mahim; Desai, Nilesh K.; Larson, Austin; Kripps, Kimberly; Vanderver, Adeline; Taft, Ryan J.; Bluske, Krista; Perry, Denise; Nagakura, Honey; Immken, LaDonna L.; Burrage, Lindsay C.; Bacino, Carlos A.; Belmont, John W.; Network, Undiagnosed Diseases; Lee, Brendan
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(7):1652-1656
Academic Journal
Boone, Philip M.; Bacino, Carlos A.; Shaw, Chad A.; Eng, Patricia A.; Hixson, Patricia M.; Pursley, Amber N.; Kang, Sung-Hae L.; Yang, Yaping; Wiszniewska, Joanna; Nowakowska, Beata A.; del Gaudio, Daniela; Xia, Zhilian; Simpson-Patel, Gayle; Immken, LaDonna L.; Gibson, James B.; Tsai, Anne C.-H.; Bowers, Jennifer A.; Reimschisel, Tyler E.; Schaaf, Christian P.; Potocki, Lorraine; Scaglia, Fernando; Gambin, Tomasz; Sykulski, Maciej; Bartnik, Magdalena; Derwinska, Katarzyna; Wisniowiecka-Kowalnik, Barbara; Lalani, Seema R.; Probst, Frank J.; Bi, Weimin; Beaudet, Arthur L.; Patel, Ankita; Lupski, James R.; Cheung, Sau Wai; Stankiewicz, Pawel
Human Mutation. Dec 01, 2010 31(12):1326-1342
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Academic Journal
El-Hattab, Ayman W.; Smolarek, Teresa A.; Walker, Martha E.; Schorry, Elizabeth K.; Immken, LaDonna L.; Patel, Gayle; Abbott, Mary-Alice; Lanpher, Brendan C.; Zhishuo Ou; Kang, Sung-Hae L.; Patel, Ankita; Scaglia, Fernando; Lupski, James R.; Sau Wai Cheung; Stankiewicz, Pawel
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[AR] Immken, Ladonna L.
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