학술논문
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'학술논문'
에서 검색결과 106건 | 목록
1~20
Academic Journal
Ng, Bobby G. ; Eklund, Erik A. ; Rosenfeld, Jill A. ; Elias, Abdallah F. ; Abu-El-Haija, Aya ; Bris, Celine ; Barth, Magalie ; Chae, Jong-Hee ; Choi, Murim ; Dubbs, Holly A. ; Fratter, Carl ; Foulds, Nicola ; Gamble, Candace ; Gavrilova, Ralitza H. ; Haven, Jaclyn ; Hoffman, Trevor L. ; Hunter, Jill V. ; Larson, Austin ; Lotze, Timothy Edward ; Magoulas, Pilar ; Magness, Emily C. ; Bootin, Debra M. ; Marsh, Eric D. ; Nesbitt, Victoria ; Pastore, Matthew T. ; Poulton, Joanna ; Rahman, Shamima ; Scaglia, Fernando ; Murali, Chaya ; Posey, Jennifer ; Rotenberg, Joshua ; Schmalz, Betsy ; Shinde, Deepali N. ; Powis, Zöe ; Sukenik-Halevy, Rivka ; Truxal, Kristen V. ; Uster, Tami ; Machado Bressan Wilke, Matheus Vernet ; Klee, Erik ; Woo, Hyewon ; Younkin, Donald ; Zhao, Jianhua ; Granadillo, Jorge ; Lalani, Seema ; Chitayat, David ; Chung, Wendy K. ; Freeze, Hudson H. ; Okur, Volkan
In Genetics in Medicine Open 2025 3
Academic Journal
Smith, Erica D. ; Blanco, Kirsten ; Sajan, Samin A. ; Hunter, Jesse M. ; Shinde, Deepali N. ; Wayburn, Bess ; Rossi, Mari ; Huang, Jennifer ; Stevens, Cathy A. ; Muss, Candace ; Alcaraz, Wendy ; Hagman, Kelly D. Farwell ; Tang, Sha ; Radtke, Kelly
In Genetics in Medicine October 2019 21(10):2199-2207
Academic Journal
Balling, Rudi; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Depienne, Christel; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jähn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Komarek, Vladimir; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes R.; Lerche, Holger; Linnankivi, Tarja; Marini, Carla; May, Patrick; Muhle, Hiltrud; Pal, Deb K.; Palotie, Aarno; Rosenow, Felix; Schubert-Bast, Susanne; Selmer, Kaja; Serratosa, Jose M.; Sisodiya, Sanjay; Stephani, Ulrich; Striano, Pasquale; Suls, Arvid; Talvik, Tiina; von Spiczak, Sarah; Weckhuysen, Sarah; Zara, Federico; Avillach, Paul; Bartels, Anna; Biswas, Sawona; Bourgeois, Florence; Devkota, Batsal; Glauser, Tracy; Hallinan, Barbara; Heath, Allison; Hirschhorn, Joel; Kilbourn, Judson; Kong, Sek Won; Krantz, Ian; Lee, In-Hee; Mandl, Kenneth D.; Marsh, Eric; Sund, Kristen; Taylor, Deanne; White, Peter; Helbig, Ingo ; Lopez-Hernandez, Tania ; Shor, Oded ; Galer, Peter ; Ganesan, Shiva ; Pendziwiat, Manuela ; Rademacher, Annika ; Ellis, Colin A. ; Hümpfer, Nadja ; Schwarz, Niklas ; Seiffert, Simone ; Peeden, Joseph ; Shen, Joseph ; Štěrbová, Katalin ; Hammer, Trine Bjørg ; Møller, Rikke S. ; Shinde, Deepali N. ; Tang, Sha ; Smith, Lacey ; Poduri, Annapurna ; Krause, Roland ; Benninger, Felix ; Helbig, Katherine L. ; Haucke, Volker ; Weber, Yvonne G.
In The American Journal of Human Genetics 6 June 2019 104(6):1060-1072
Academic Journal
Kim, Jung-Hyun ; Park, Eun Young ; Chitayat, David ; Stachura, David L. ; Schaper, Jörg ; Lindstrom, Kristin ; Jewett, Tamison ; Wieczorek, Dagmar ; Draaisma, Jos M. ; Sinnema, Margje ; Hoeberigs, Christianne ; Hempel, Maja ; Bachman, Kristine K. ; Seeley, Andrea H. ; Stone, Joshua K. ; Kong, Hyun Kyung ; Vukadin, Lana ; Richard, Alexander ; Shinde, Deepali N. ; McWalter, Kirsty ; Si, Yue Cindy ; Douglas, Ganka ; Lim, Ssang-Taek ; Vissers, Lisenka E.L.M. ; Lemaire, Mathieu ; Ahn, Eun-Young Erin
In Kidney International June 2019 95(6):1494-1504
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
Vögtle, F.-Nora ; Brändl, Björn ; Larson, Austin ; Pendziwiat, Manuela ; Friederich, Marisa W. ; White, Susan M. ; Basinger, Alice ; Kücükköse, Cansu ; Muhle, Hiltrud ; Jähn, Johanna A. ; Keminer, Oliver ; Helbig, Katherine L. ; Delto, Carolyn F. ; Myketin, Lisa ; Mossmann, Dirk ; Burger, Nils ; Miyake, Noriko ; Burnett, Audrey ; van Baalen, Andreas ; Lovell, Mark A. ; Matsumoto, Naomichi ; Walsh, Maie ; Yu, Hung-Chun ; Shinde, Deepali N. ; Stephani, Ulrich ; Van Hove, Johan L.K. ; Müller, Franz-Josef ; Helbig, Ingo
In The American Journal of Human Genetics 5 April 2018 102(4):557-573
Academic Journal
Stankiewicz, Paweł ; Khan, Tahir N. ; Szafranski, Przemyslaw ; Slattery, Leah ; Streff, Haley ; Vetrini, Francesco ; Bernstein, Jonathan A. ; Brown, Chester W. ; Rosenfeld, Jill A. ; Rednam, Surya ; Scollon, Sarah ; Bergstrom, Katie L. ; Parsons, Donald W. ; Plon, Sharon E. ; Vieira, Marta W. ; Quaio, Caio R.D.C. ; Baratela, Wagner A.R. ; Acosta Guio, Johanna C. ; Armstrong, Ruth ; Mehta, Sarju G. ; Rump, Patrick ; Pfundt, Rolph ; Lewandowski, Raymond ; Fernandes, Erica M. ; Shinde, Deepali N. ; Tang, Sha ; Hoyer, Juliane ; Zweier, Christiane ; Reis, André ; Bacino, Carlos A. ; Xiao, Rui ; Breman, Amy M. ; Smith, Janice L. ; Katsanis, Nicholas ; Bostwick, Bret ; Popp, Bernt ; Davis, Erica E. ; Yang, Yaping
In The American Journal of Human Genetics 5 October 2017 101(4):503-515
Academic Journal
Myers, Candace T. ; Stong, Nicholas ; Mountier, Emily I. ; Helbig, Katherine L. ; Freytag, Saskia ; Sullivan, Joseph E. ; Ben Zeev, Bruria ; Nissenkorn, Andreea ; Tzadok, Michal ; Heimer, Gali ; Shinde, Deepali N. ; Rezazadeh, Arezoo ; Regan, Brigid M. ; Oliver, Karen L. ; Ernst, Michelle E. ; Lippa, Natalie C. ; Mulhern, Maureen S. ; Ren, Zhong ; Poduri, Annapurna ; Andrade, Danielle M. ; Bird, Lynne M. ; Bahlo, Melanie ; Berkovic, Samuel F. ; Lowenstein, Daniel H. ; Scheffer, Ingrid E. ; Sadleir, Lynette G. ; Goldstein, David B. ; Mefford, Heather C. ; Heinzen, Erin L.
In The American Journal of Human Genetics 5 October 2017 101(4):516-524
Academic Journal
Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron ; Smith, Erica ; Radtke, Kelly ; Shahmirzadi, Layla ; El-Khechen, Dima ; Powis, Zöe ; Chao, Elizabeth C. ; Alcaraz, Wendy A. ; Helbig, Katherine L. ; Sajan, Samin A. ; Rossi, Mari ; Lu, Hsiao-Mei ; Huether, Robert ; Li, Shuwei ; Wu, Sitao ; Nuñes, Mark E. ; Tang, Sha
In Genetics in Medicine February 2017 19(2):224-235
Academic Journal
Helbig, Katherine L. ; Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron ; Powis, Zöe ; Li, Shuwei ; Tang, Sha ; Helbig, Ingo
In Genetics in Medicine September 2016 18(9):898-905
Academic Journal
Radio, Francesca Clementina ; Pang, Kaifang ; Ciolfi, Andrea ; Levy, Michael A. ; Hernández-García, Andrés ; Pedace, Lucia ; Pantaleoni, Francesca ; Liu, Zhandong ; de Boer, Elke ; Jackson, Adam ; Bruselles, Alessandro ; McConkey, Haley ; Stellacci, Emilia ; Lo Cicero, Stefania ; Motta, Marialetizia ; Carrozzo, Rosalba ; Dentici, Maria Lisa ; McWalter, Kirsty ; Desai, Megha ; Monaghan, Kristin G. ; Telegrafi, Aida ; Philippe, Christophe ; Vitobello, Antonio ; Au, Margaret ; Grand, Katheryn ; Sanchez-Lara, Pedro A. ; Baez, Joanne ; Lindstrom, Kristin ; Kulch, Peggy ; Sebastian, Jessica ; Madan-Khetarpal, Suneeta ; Roadhouse, Chelsea ; MacKenzie, Jennifer J. ; Monteleone, Berrin ; Saunders, Carol J. ; Jean Cuevas, July K. ; Cross, Laura ; Zhou, Dihong ; Hartley, Taila ; Sawyer, Sarah L. ; Monteiro, Fabíola Paoli ; Secches, Tania Vertemati ; Kok, Fernando ; Schultz-Rogers, Laura E. ; Macke, Erica L. ; Morava, Eva ; Klee, Eric W. ; Kemppainen, Jennifer ; Iascone, Maria ; Selicorni, Angelo ; Tenconi, Romano ; Amor, David J. ; Pais, Lynn ; Gallacher, Lyndon ; Turnpenny, Peter D. ; Stals, Karen ; Ellard, Sian ; Cabet, Sara ; Lesca, Gaetan ; Pascal, Joset ; Steindl, Katharina ; Ravid, Sarit ; Weiss, Karin ; Castle, Alison M.R. ; Carter, Melissa T. ; Kalsner, Louisa ; de Vries, Bert B.A. ; van Bon, Bregje W. ; Wevers, Marijke R. ; Pfundt, Rolph ; Stegmann, Alexander P.A. ; Kerr, Bronwyn ; Kingston, Helen M. ; Chandler, Kate E. ; Sheehan, Willow ; Elias, Abdallah F. ; Shinde, Deepali N. ; Towne, Meghan C. ; Robin, Nathaniel H. ; Goodloe, Dana ; Vanderver, Adeline ; Sherbini, Omar ; Bluske, Krista ; Hagelstrom, R. Tanner ; Zanus, Caterina ; Faletra, Flavio ; Musante, Luciana ; Kurtz-Nelson, Evangeline C. ; Earl, Rachel K. ; Anderlid, Britt-Marie ; Morin, Gilles ; van Slegtenhorst, Marjon ; Diderich, Karin E.M. ; Brooks, Alice S. ; Gribnau, Joost ; Boers, Ruben G. ; Finestra, Teresa Robert ; Carter, Lauren B. ; Rauch, Anita ; Gasparini, Paolo ; Boycott, Kym M. ; Barakat, Tahsin Stefan ; Graham, John M., Jr. ; Faivre, Laurence ; Banka, Siddharth ; Wang, Tianyun ; Eichler, Evan E. ; Priolo, Manuela ; Dallapiccola, Bruno ; Vissers, Lisenka E.L.M. ; Sadikovic, Bekim ; Scott, Daryl A. ; Holder, Jimmy Lloyd, Jr. ; Tartaglia, Marco
In The American Journal of Human Genetics 4 March 2021 108(3):502-516
Academic Journal
Snijders Blok, Lot ; Kleefstra, Tjitske ; Venselaar, Hanka ; Maas, Saskia ; Kroes, Hester Y. ; Lachmeijer, Augusta M.A. ; van Gassen, Koen L.I. ; Firth, Helen V. ; Tomkins, Susan ; Bodek, Simon ; Õunap, Katrin ; Wojcik, Monica H. ; Cunniff, Christopher ; Bergstrom, Katherine ; Powis, Zoë ; Tang, Sha ; Shinde, Deepali N. ; Au, Catherine ; Iglesias, Alejandro D. ; Izumi, Kosuke ; Leonard, Jacqueline ; Abou Tayoun, Ahmad ; Baker, Samuel W. ; Tartaglia, Marco ; Niceta, Marcello ; Dentici, Maria Lisa ; Okamoto, Nobuhiko ; Miyake, Noriko ; Matsumoto, Naomichi ; Vitobello, Antonio ; Faivre, Laurence ; Philippe, Christophe ; Gilissen, Christian ; Wiel, Laurens ; Pfundt, Rolph ; Deriziotis, Pelagia ; Brunner, Han G. ; Fisher, Simon E.
In The American Journal of Human Genetics 1 August 2019 105(2):403-412
Academic Journal
Farwell Hagman, Kelly D. ; Shinde, Deepali N. ; Mroske, Cameron ; Smith, Erica ; Radtke, Kelly ; Shahmirzadi, Layla ; El-Khechen, Dima ; Powis, Zöe ; Chao, Elizabeth C. ; Alcaraz, Wendy A. ; Helbig, Katherine L. ; Sajan, Samin A. ; Rossi, Mari ; Lu, Hsiao-Mei ; Huether, Robert ; Li, Shuwei ; Wu, Sitao ; Nuñes, Mark E. ; Tang, Sha
In Genetics in Medicine September 2018 20(9):1099-1102
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation
Academic Journal
Ng, Bobby G. ; Xu, Gege ; Chandy, Nandini ; Steyermark, Joan ; Shinde, Deepali N. ; Radtke, Kelly ; Raymond, Kimiyo ; Lebrilla, Carlito B. ; AlAsmari, Ali ; Suchy, Sharon F. ; Powis, Zöe ; Faqeih, Eissa Ali ; Berry, Susan A. ; Kronn, David F. ; Freeze, Hudson H.
In The American Journal of Human Genetics 4 January 2018 102(1):188-195
Academic Journal
Martin, Sonja ; Chamberlin, Adam ; Shinde, Deepali N. ; Hempel, Maja ; Strom, Tim M. ; Schreiber, Allison ; Johannsen, Jessika ; Ousager, Lilian Bomme ; Larsen, Martin J. ; Hansen, Lars Kjaersgaard ; Fatemi, Ali ; Cohen, Julie S. ; Lemke, Johannes ; Sørensen, Kristina P. ; Helbig, Katherine L. ; Lessel, Davor ; Abou Jamra, Rami
In The American Journal of Human Genetics 7 December 2017 101(6):1013-1020
Academic Journal
Kim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R.F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Daniëlle G.M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris A. ; Sinnema, Margje ; Stumpel, Connie T.R.M. ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B.A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P.A. ; Stevens, Servi J.C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E.L.M. ; Ahn, Eun-Young Erin
In The American Journal of Human Genetics 1 September 2016 99(3):711-719
Academic Journal
Wei, Aguan D.; Wakenight, Paul; Zwingman, Theresa A.; Bard, Angela M.; Sahai, Nikhil; Willemsen, Marjolein H.; Schelhaas, Helenius J.; Stegmann, Alexander P. A.; Verhoeven, Judith S.; de Man, Stella A.; Wessels, Marja W.; Kleefstra, Tjitske; Shinde, Deepali N.; Helbig, Katherine L.; Basinger, Alice; Wagner, Victoria F.; Rodriguez-Buritica, David; Bryant, Emily; Millichap, John J.; Millen, Kathleen J.
Academic Journal
Towne, Meghan C.; Rossi, Mari; Wayburn, Bess; Huang, Jennifer M.; Radtke, Kelly; Alcaraz, Wendy; Farwell Hagman, Kelly D.; Shinde, Deepali N.
Human Mutation; Jun2022, Vol. 43 Issue 6, p772-781, 10p
Academic Journal
Mroske, Cameron; Rasmussen, Kristen; Shinde, Deepali N.; Huether, Robert; Powis, Zoe; Hsiao-Mei Lu; Baxter, Ruth M.; McPherson, Elizabeth; Sha Tang
Academic Journal
Glinton, Kevin E.; Hurst, Anna C. E.; Bowling, Kevin M.; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B.; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N.; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; Haeringen, Arie; Piton, Amélie; Capri, Yline; Furlan, Margherita; Gardella, Elena; Møller, Rikke Steensbjerre
American Journal of Medical Genetics. Part A; May2021, Vol. 185 Issue 5, p1366-1378, 13p
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[AR] Shinde, Deepali N.
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