학술논문
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'학술논문'
에서 검색결과 387건 | 목록
1~20
Academic Journal
Di Donato, Nataliya ; Thom, Andrew ; Rump, Andreas ; Greve, Johannes N. ; Cadiñanos, Juan ; Calabrò, Rocco Salvatore ; Cathey, Sara ; Chung, Brian ; Cope, Heidi ; Costales, Maria ; Cuvertino, Sara ; Dinkel, Philine ; Erripi, Kalliopi ; Fry, Andrew E. ; Garavelli, Livia ; Hoffjan, Sabine ; Janzarik, Wibke G. ; Kreimer, Insa ; Mancini, Grazia ; Marin-Reina, Purificacion ; Meinhardt, Andrea ; Niehaus, Indra ; Pilz, Daniela ; Ricca, Ivana ; Simarro, Fernando Santos ; Schrock, Evelin ; Marquardt, Anja ; Taft, Manuel H. ; Tezcan, Kamer ; Thunström, Sofia ; Verhagen, Judith ; Verloes, Alain ; Wollnik, Bernd ; Krawitz, Peter ; Hsieh, Tzung-Chien ; Seifert, Michael ; Heide, Michael ; Lawrence, Catherine B. ; Roberts, Neil A. ; Manstein, Dietmar J. ; Woolf, Adrian S. ; Banka, Siddharth
In The American Journal of Human Genetics 5 February 2026 113(2):324-341
Academic Journal
Hecquet, Théo ; Arbogast, Nadine ; Suhner, Delphine ; Goetz, Anaïs ; Amann, Grégory ; Yürekli, Selin ; Marangoni, Fiona ; Quintin, Sophie ; Greve, Johannes N. ; Di Donato, Nataliya ; Reymann, Anne-Cécile
In iScience 21 November 2025 28(11)
Academic Journal
Guo, Long ; Salian, Smrithi ; Xue, Jing-yi ; Rath, Nicola ; Rousseau, Justine ; Kim, Hyunyun ; Ehresmann, Sophie ; Moosa, Shahida ; Nakagawa, Norio ; Kuroda, Hiroshi ; Clayton-Smith, Jill ; Wang, Juan ; Wang, Zheng ; Banka, Siddharth ; Jackson, Adam ; Zhang, Yan-min ; Wei, Zhen-jie ; Hüning, Irina ; Brunet, Theresa ; Ohashi, Hirofumi ; Thomas, Molly F. ; Bupp, Caleb ; Miyake, Noriko ; Matsumoto, Naomichi ; Mendoza-Londono, Roberto ; Costain, Gregory ; Hahn, Gabriele ; Di Donato, Nataliya ; Yigit, Gökhan ; Yamada, Takahiro ; Nishimura, Gen ; Ansel, K Mark ; Wollnik, Bernd ; Hrabě de Angelis, Martin ; Mégarbané, André ; Rosenfeld, Jill A. ; Heissmeyer, Vigo ; Ikegawa, Shiro ; Campeau, Philippe M.
In The American Journal of Human Genetics 6 July 2023 110(7):1068-1085
Academic Journal
Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldrich, Madison P.; Grajewski, Alana; Gutierrez, Irma; Hadley, Don; Hahn, Sihoun; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Lalani, Seema R.; Lam, Byron; Lam, Christina; LaMoure, Grace L.; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Nakano-Okuno, Mariko; Nelson, Stan F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina GS.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Raper, Anna; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Krezel, Lilianna Solnica; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L.M.; Tan, Queenie K.- G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Weisz-Hubshman, Monika; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zastrow, Diane B.; Zhang, Zhe; Zhao, Chunli; Zuchner, Stephan; Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello ; Weisz Hubshman, Monika ; Kanca, Oguz ; Schultz-Rogers, Laura ; Zarate, Yuri A. ; Schaefer, G. Bradley ; Granadillo De Luque, Jorge Luis ; Wegner, Daniel J. ; Cogne, Benjamin ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Wagner, Eric J. ; Pais, Lynn S. ; Neil, Jennifer E. ; Mochida, Ganeshwaran H. ; Walsh, Christopher A. ; Magal, Nurit ; Drasinover, Valerie ; Shohat, Mordechai ; Schwab, Tanya ; Schmitz, Chris ; Clark, Karl ; Fine, Anthony ; Lanpher, Brendan ; Gavrilova, Ralitza ; Blanc, Pierre ; Burglen, Lydie ; Afenjar, Alexandra ; Steel, Dora ; Kurian, Manju A. ; Prabhakar, Prab ; Gößwein, Sophie ; Di Donato, Nataliya ; Bertini, Enrico S. ; Tartaglia, Marco ; Klee, Eric W.
In The American Journal of Human Genetics 4 May 2023 110(5):774-789
Academic Journal
Greve, Johannes N. ; Schwäbe, Frederic V. ; Pokrant, Thomas ; Faix, Jan ; Di Donato, Nataliya ; Taft, Manuel H. ; Manstein, Dietmar J.
In European Journal of Cell Biology April 2022 101(2)
Academic Journal
In European Journal of Paediatric Neurology March 2022 37:123-128
Academic Journal
In European Journal of Paediatric Neurology November 2021 35:147-152
Academic Journal
Melo, Uirá Souto ; Bonner, Devon ; Kent Lloyd, Kevin C. ; Moshiri, Ala ; Willis, Brandon ; Lanoue, Louise ; Bower, Lynette ; Leonard, Brian C. ; Martins, Davi Jardim ; Gomes, Fernando ; de Souza Leite, Felipe ; Oliveira, Danyllo ; Kitajima, João Paulo ; Monteiro, Fabiola P. ; Zatz, Mayana ; Menck, Carlos Frederico Martins ; Wheeler, Matthew T. ; Bernstein, Jonathan A. ; Dumas, Kevin ; Spiteri, Elizabeth ; Di Donato, Nataliya ; Jahn, Arne ; Hashem, Mais ; Alsaif, Hessa S. ; Chedrawi, Aziza ; Alkuraya, Fowzan S. ; Kok, Fernando ; Byers, Heather M.
In Genetics in Medicine April 2021 23(4):661-668
Book
In Swaiman's Pediatric Neurology Edition: Seventh Edition. 2026:375
Academic Journal
Walsh, Sonja ; Gösswein, Sophie Scarlett ; Rump, Andreas ; von der Hagen, Maja ; Hackmann, Karl ; Schröck, Evelin ; Di Donato, Nataliya ; Kahlert, Anne-Karin
In European Journal of Medical Genetics October 2020 63(10)
Academic Journal
Lennox, Ashley L. ; Hoye, Mariah L. ; Jiang, Ruiji ; Johnson-Kerner, Bethany L. ; Suit, Lindsey A. ; Venkataramanan, Srivats ; Sheehan, Charles J. ; Alsina, Fernando C. ; Fregeau, Brieana ; Aldinger, Kimberly A. ; Moey, Ching ; Lobach, Iryna ; Afenjar, Alexandra ; Babovic-Vuksanovic, Dusica ; Bézieau, Stéphane ; Blackburn, Patrick R. ; Bunt, Jens ; Burglen, Lydie ; Campeau, Philippe M. ; Charles, Perrine ; Chung, Brian H.Y. ; Cogné, Benjamin ; Curry, Cynthia ; D’Agostino, Maria Daniela ; Di Donato, Nataliya ; Faivre, Laurence ; Héron, Delphine ; Innes, A. Micheil ; Isidor, Bertrand ; Keren, Boris ; Kimball, Amy ; Klee, Eric W. ; Kuentz, Paul ; Küry, Sébastien ; Martin-Coignard, Dominique ; Mirzaa, Ghayda ; Mignot, Cyril ; Miyake, Noriko ; Matsumoto, Naomichi ; Fujita, Atsushi ; Nava, Caroline ; Nizon, Mathilde ; Rodriguez, Diana ; Blok, Lot Snijders ; Thauvin-Robinet, Christel ; Thevenon, Julien ; Vincent, Marie ; Ziegler, Alban ; Dobyns, William ; Richards, Linda J. ; Barkovich, A. James ; Floor, Stephen N. ; Silver, Debra L. ; Sherr, Elliott H.
In Neuron 6 May 2020 106(3):404-420
Academic Journal
Niehaus, Indra; Wilsch-Bräuninger, Michaela; Mora-Bermúdez, Felipe; Rost, Fabian; Bobic-Rasonja, Mihaela; Radosevic, Velena; Milkovic-Perisa, Marija; Wimberger, Pauline; Severino, Mariasavina; Haase, Alexandra; Martin, Ulrich; Kuenzel, Karolina; Guan, Kaomei; Neumann, Katrin; Walker, Noreen; Schröck, Evelin; Jovanov-Milosevic, Natasa; Huttner, Wieland B; Di Donato, Nataliya; Heide, Michael
EMBO Reports; Jan2026, Vol. 27 Issue 2, p387-415, 29p
Academic Journal
Gráczer, Éva; Battirossi, Elena; Bozó, Tamás; Altorjay, Áron Gellért; Pászty, Katalin; Harsányi, Laura; Greve, Johannes N.; Pertici, Irene; Reconditi, Massimo; Di Donato, Nataliya; Kellermayer, Miklós; Bianco, Pasquale; Varga, Andrea
Academic Journal
Platzer, Konrad ; Sticht, Heinrich ; Edwards, Stacey L. ; Allen, William ; Angione, Kaitlin M. ; Bonati, Maria T. ; Brasington, Campbell ; Cho, Megan T. ; Demmer, Laurie A. ; Falik-Zaccai, Tzipora ; Gamble, Candace N. ; Hellenbroich, Yorck ; Iascone, Maria ; Kok, Fernando ; Mahida, Sonal ; Mandel, Hanna ; Marquardt, Thorsten ; McWalter, Kirsty ; Panis, Bianca ; Pepler, Alexander ; Pinz, Hailey ; Ramos, Luiza ; Shinde, Deepali N. ; Smith-Hicks, Constance ; Stegmann, Alexander P.A. ; Stöbe, Petra ; Stumpel, Constance T.R.M. ; Wilson, Carolyn ; Lemke, Johannes R. ; Di Donato, Nataliya ; Miller, Kenneth G. ; Jamra, Rami
In The American Journal of Human Genetics 7 February 2019 104(2):203-212
Academic Journal
Porrmann, Joseph ; Rump, Andreas ; Hackmann, Karl ; Di Donato, Nataliya ; Kahlert, Anne-Karin ; Wagner, Johannes ; Jahn, Arne ; Eger, Ines ; Flury, Monika ; Schrock, Evelin ; Tzschach, Andreas ; Gieldon, Laura
In European Journal of Medical Genetics January 2019 62(1):70-72
Academic Journal
Di Donato, Nataliya ; Timms, Andrew E. ; Aldinger, Kimberly A. ; Mirzaa, Ghayda M. ; Bennett, James T. ; Collins, Sarah ; Olds, Carissa ; Mei, Davide ; Chiari, Sara ; Carvill, Gemma ; Myers, Candace T. ; Rivière, Jean-Baptiste ; Zaki, Maha S. ; Gleeson, Joseph G. ; Rump, Andreas ; Conti, Valerio ; Parrini, Elena ; Ross, M.Elizabeth ; Ledbetter, David H. ; Guerrini, Renzo ; Dobyns, William B.
In Genetics in Medicine November 2018 20(11):1354-1364
Academic Journal
Eisenberger, Tobias ; Di Donato, Nataliya ; Decker, Christian ; Delle Vedove, Andrea ; Neuhaus, Christine ; Nürnberg, Gudrun ; Toliat, Mohammad ; Nürnberg, Peter ; Mürbe, Dirk ; Bolz, Hanno Jörn
In Genetics in Medicine June 2018 20(6):614-621
Academic Journal
Allister, B. Aldrige ; Lühmann, Jonathan L. ; Wendeburg, Lena ; Dechend, Frank ; Beger, Carmela ; Tölle, Stefanie ; von Ehr, Julia ; Ripperger, Tim ; Auber, Bernd ; di Donato, Nataliya ; Steinemann, Doris
In Cancer Genetics July 2025
Academic Journal
Di Donato, Nataliya ; Jean, Ying Y. ; Maga, A. Murat ; Krewson, Briana D. ; Shupp, Alison B. ; Avrutsky, Maria I. ; Roy, Achira ; Collins, Sarah ; Olds, Carissa ; Willert, Rebecca A. ; Czaja, Agnieszka M. ; Johnson, Rachel ; Stover, Jessi A. ; Gottlieb, Steven ; Bartholdi, Deborah ; Rauch, Anita ; Goldstein, Amy ; Boyd-Kyle, Victoria ; Aldinger, Kimberly A. ; Mirzaa, Ghayda M. ; Nissen, Anke ; Brigatti, Karlla W. ; Puffenberger, Erik G. ; Millen, Kathleen J. ; Strauss, Kevin A. ; Dobyns, William B. ; Troy, Carol M. ; Jinks, Robert N.
In The American Journal of Human Genetics 3 November 2016 99(5):1117-1129
Disruption of SETD3‐mediated histidine‐73 methylation by the BWCFF‐associated β‐actin G74S mutation.
Academic Journal
Marquardt, Anja; Münchhoff, Marcus S.; Krohn, Jacqueline; Palarz, Philip M.; Taft, Manuel H.; Greve, Johannes N.; Di Donato, Nataliya; Buettner, Falk F. R.; Manstein, Dietmar J.
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