학술논문
'학술논문'
에서 검색결과 130건 | 목록
1~10
Academic Journal
Lee, Arthur; Ayers, Lauren; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia; Pratt, Brandon; Collins, Thomas; Zhao, Boxun; Rose, Matthew; Sanchis-Juan, Alba; Fu, Jack; Wong, Isaac; Zhao, Xuefang; Tenney, Alan; Lee, Cassia; Laricchia, Kristen; Barry, Brenda; Bradford, Victoria; Jurgens, Julie; England, Eleina; Lek, Monkol; MacArthur, Daniel; Lee, Eunjung; Talkowski, Michael; Brand, Harrison; Pennacchio, Len; Engle, Elizabeth
Nature Communications. 15(1)
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Singer-Berk, Moriel; Gudmundsson, Sanna; Baxter, Samantha; Seaby, Eleanor G.; England, Eleina; Wood, Jordan C.; Son, Rachel G.; Watts, Nicholas A.; Karczewski, Konrad J.; Harrison, Steven M.; MacArthur, Daniel G.; Rehm, Heidi L.; O'Donnell-Luria, Anne
American Journal of Human Genetics. 110(9):1496-1508
Academic Journal
Qian, Xuyu; DeGennaro, Ellen; Talukdar, Maya; Akula, Shyam; Lai, Abbe; Shao, Diane; Gonzalez, Dilenny; Marciano, Jack; Smith, Richard; Hylton, Norma; Yang, Edward; Bazan, J; Barrett, Lee; Yeh, Rebecca; Hill, R; Beck, Samantha; Otani, Aoi; Angad, Jolly; Mitani, Tadahiro; Posey, Jennifer; Pehlivan, Davut; Calame, Daniel; Aydin, Hatip; Yesilbas, Osman; Parks, Kendall; England, Eleina; Im, Kiho; Taranath, Ajay; Scott, Hamish; Barnett, Christopher; Arts, Peer; Sherr, Elliott; Lupski, James; Walsh, Christopher; Argilli, Emanuela
Developmental Cell. 57(20)
Academic Journal
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Mau-them, Frederic Tran; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Mucca, Marion Aubert; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie; de Dios, John Karl; England, Eleina; Funalot, Benoit; Gerard, Marion; Joseph, Maries; Kennedy, Colleen; Kumps, Camille; Willems, Marjolaine; van de Laar, Ingrid MBH; Aarts-Tesselaar, Coranne; van Slegtenhorst, Marjon; Lehalle, Daphné; Leppig, Kathleen; Lessmeier, Lennart; Pais, Lynn S; Paterson, Heather; Ramanathan, Subhadra; Rodan, Lance H; Superti-Furga, Andrea; Chung, Brian HY; Sherr, Elliott; Netzer, Christian; Schaaf, Christian P; Erger, Florian
Journal of Medical Genetics. 59(7)
Academic Journal
Lecoquierre, François; Punt, A. Mattijs; Ebstein, Frédéric; Wallaard, Ilse; Verhagen, Rob; Studencka-Turski, Maja; Duffourd, Yannis; Moutton, Sébastien; Tran Mau-Them, Frédédic; Philippe, Christophe; Dean, John; Tennant, Stephen; Brooks, Alice S.; van Slegtenhorst, Marjon A.; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; England, Eleina M.; Martinez Ojeda, Mayra; Engle, Elizabeth C.; Robson, Caroline D.; Morrow, Michelle; Innes, A. Micheil; Lamont, Ryan; Sanderson, Matthea; Krüger, Elke; Thauvin, Christel; Distel, Ben; Faivre, Laurence; Elgersma, Ype; Vitobello, Antonio
In Genetics in Medicine June 2024 26(6)
Academic Journal
Lemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O’Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Bönnemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Töpf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Õunap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Gafner, Michal; Michelson, Marina; Argilli, Emanuela; Yosovich, Keren; Sherr, Elliott H; Parks, Kendall C; England, Eleina M; Hady-Cohen, Ronen; Leibovitz, Zvi; Lev, Dorit; Michaeli-Yosef, Yael; Lerman-Sagie, Tally; Blumkin, Lubov
Journal of Human Genetics. 67(2)
Academic Journal
Austin-Tse, Christina; DiTroia, Stephanie; O'Leary, Melanie; VanNoy, Grace; Mangilog, Brian; Shah, Gulalai; Martinez, Eva; Serrano, Jillian; Pais, Lynn; O'Heir, Emily; Osei-Owusu, Ikeoluwa; Lemire, Gabrielle; Ganesh, Vijay; Stenton, Sarah; Amin, Mutaz; Socarras, Kayla; Singh, Mugdha; Hall, Stacey; Larsson, Katie; Singer-Berk, Moriel; Marten, Daniel; Wilson, Michael; Snow, Hana; Blankenmeister, Benjamin; Ma, Jialan; Weisburd, Ben; Sanchis-Juan, Alba; Brand, Harrison; Groopman, Emily; Lovgren, Alysia; Williamson, Clara; Hollyer, Marissa; England, Eleina; Seaby, Eleanor; Chao, Katherine; Goodrich, Julia; Baxter, Samantha; MacArthur, Daniel; Talkowski, Michael; Wojcik, Monica; O'Donnell-Luria, Anne; Rehm, Heidi
Genetics in Medicine Open. 2
Academic Journal
Abarca-Barriga, Hugo; Al-Haddad, Christiane; Berman, Jeffrey L.; Bothun, Erick D.; Capasso, Jenina; Chacon-Camacho, Oscar Francisco; Chang, Lan; Christiansen, Stephen P.; Ciccarelli, Maria Laura; Cordonnier, Monique; Cox, Gerald F.; Curry, Cynthia J.; Dagi, Linda R.; Lee Dahm, Thomas; David, Karen L.; Davitt, Bradley V.; De Berardinis, Teresa; Demer, Joseph L.; Désir, Julie; D’Esposito, Fabiana; Drack, Arlene V.; Eggenberger, Eric; Elder, James E.; Elliott, Alexandra T.; Epley, K. David; Feldman, Hagit Baris; Ferreira, Carlos R.; Flaherty, Maree P.; Fulton, Anne B.; Gerth-Kahlert, Christina; Gottlob, Irene; Grill, Stephen; Halliday, Dorothy J.; Hanisch, Frank; Hay, Eleanor; Heidary, Gena; Holder, Christopher; Horton, Jonathan C.; Iannaccone, Alessandro; Isenberg, Sherwin J.; Johnston, Suzanne C.; Kahana, Alon; Katowitz, James A.; Kazlas, Melanie; Kerr, Natalie C.; Kimonis, Virginia; Ko, Melissa W.; Koc, Feray; Larsen, Dorte Ancher; Lay-Son, Guillermo; Ledoux, Danielle M.; Levin, Alex V.; Levy, Richard L.; Lyons, Christopher J.; Mackey, David A.; Magli, Adriano; Mantagos, Iason S.; Marti, Candice; Maystadt, Isabelle; McKenzie, Fiona; Menezes, Manoj P.; Mikail, Claudia N.; Miller, David T.; Miller, Kathryn Bisceglia; Mills, Monte D.; Miyana, Kaori; Moller, H.U.; Mullineaux, Lisa; Nishimura, Julie K.; Noble, A. Gwendolyn; Pandey, Pramod Kumar; Pavone, Piero; Penzien, Johann; Petersen, Robert; Phalen, James A.; Poduri, Annapurna; Polo, Claudia R.; Prasov, Lev; Ramos, Feliciano J.; Ramos-Caceres, Maria; Robb, Richard M.; Rossillion, Béatrice; Sahin, Mustafa; Singer, Harvey S.; Smith, Lois E.H.; Sorkin, Jeffrey A.; Soul, Janet S.; Staffieri, Sandra E.; Stalker, Heather J.; Stasheff, Steven F.; Strassberg, Sonya; Strominger, Mitchell B.; Taranath, Deepa Ajay; Thomas, Ioan Talfryn; Traboulsi, Elias I.; Ugrin, Maria Cristina; VanderVeen, Deborah K.; Vincent, Andrea L.; Vogel G, Marlene C.; Wabbels, Bettina; Wong, Agnes M.F.; Woods, C. Geoffrey; Wu, Carolyn; Yang, Edward; Yeung, Alison; Young, Terri L.; Zenteno, Juan C.; Zubcov-Iwantscheff, Alexandra A.; Zwaan, Johan; Jurgens, Julie A.; Barry, Brenda J.; Chan, Wai-Man; MacKinnon, Sarah; Whitman, Mary C.; Matos Ruiz, Paola M.; Pratt, Brandon M.; England, Eleina M.; Pais, Lynn; Lemire, Gabrielle; Groopman, Emily; Glaze, Carmen; Russell, Kathryn A.; Singer-Berk, Moriel; Di Gioia, Silvio Alessandro; Lee, Arthur S.; Andrews, Caroline; Shaaban, Sherin; Wirth, Megan M.; Bekele, Sarah; Toffoloni, Melissa; Bradford, Victoria R.; Foster, Emma E.; Berube, Lindsay; Rivera-Quiles, Cristina; Mensching, Fiona M.; Sanchis-Juan, Alba; Fu, Jack M.; Wong, Isaac; Zhao, Xuefang; Wilson, Michael W.; Weisburd, Ben; Lek, Monkol; Brand, Harrison; Talkowski, Michael E.; MacArthur, Daniel G.; O’Donnell-Luria, Anne; Robson, Caroline D.; Hunter, David G.; Engle, Elizabeth C.
In Genetics in Medicine July 2024
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