학술논문
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'학술논문'
에서 검색결과 197건 | 목록
1~20
Academic Journal
Li, Zhen; Chawla, Himanshi; Di Vagno, Lucia; Ní Cheallaigh, Aisling; Critcher, Meg; Sammon, Douglas; Gonzalez-Rodriguez, Edgar; Briggs, David C.; Chung, Nara; Chang, Vincent; Mahoney, Keira E.; Cioce, Anna; Bineva-Todd, Ganka; Wang, Pei-Ying; Liu, Yi-Chang; Murphy, Lloyd D.; Chen, Yen-Hsi; Narimatsu, Yoshiki; Miller, Rebecca L.; Willems, Lianne I.; Malaker, Stacy A.; Huang, Mia L.; Miller, Gavin J.; Hohenester, Erhard; Schumann, Benjamin
Nature Chemical Biology. :1-10
Academic Journal
Debets, Marjoke F.; Tastan, Omur Y.; Wisnovsky, Simon P.; Malaker, Stacy A.; Angelis, Nikolaos; Moeckl, Leonhard K. R.; Choi, Junwon; Flynn, Helen; Wagner, Lauren J. S.; Bineva-Todd, Ganka; Antonopoulos, Aristotelis; Cioce, Anna; Browne, William M.; Li, Zhen; Briggs, David C.; Douglas, Holly L.; Hess, Gaelen T.; Agbay, Anthony J.; Roustan, Chloe; Kjaer, Svend; Haslam, Stuart M.; Snijders, Ambrosius P.; Bassik, Michael C.; Moerner, W. E.; Li, Vivian S. W.; Bertozzi, Carolyn R.; Schumann, Benjamin
Proceedings of the National Academy of Sciences of the United States of America, 2020 Oct . 117(41), 25293-25301.
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Academic Journal
Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B. ; Alkhunaizi, Ebba ; Brandt, Tracy ; Chitayat, David A. ; DeFilippo, Colette P. ; Douglas, Ganka V. ; Dubbs, Holly A. ; Elloumi, Houda Zghal ; Glassford, Megan R. ; Hannibal, Mark C. ; Héron, Bénédicte ; Kim, Linda E. ; Marco, Elysa J. ; Mignot, Cyril ; Monaghan, Kristin G. ; Myers, Kenneth A. ; Parikh, Sumit ; Quinonez, Shane C. ; Rajabi, Farrah ; Shankar, Suma P. ; Shinawi, Marwan S. ; van de Kamp, Jiddeke J.P. ; Veerapandiyan, Aravindhan ; Waldman, Amy T. ; Graf, William D.
In Pediatric Neurology January 2022 126:65-73
Academic Journal
Nunziata Maio; Rotem Orbach; Irina T. Zaharieva; Ana Töpf; Sandra Donkervoort; Pinki Munot; Juliane Mueller; Tracey Willis; Sumit Verma; Stojan Peric; Deepa Krishnakumar; Sniya Sudhakar; A. Reghan Foley; Sarah Silverstein; Ganka Douglas; Lynn Pais; Stephanie DiTroia; Christopher Grunseich; Ying Hu; Caroline Sewry; Anna Sarkozy; Volker Straub; Francesco Muntoni; Tracey A. Rouault; Carsten G. Bönnemann
J Clin Invest
Academic Journal
Genetics in Medicine Open. 2
Academic Journal
Nunziata Maio; Rotem Orbach; Irina Zaharieva; Ana Töpf; Sandra Donkervoort; Pinki Munot; Juliane Mueller; Tracey Willis; Sumit Verma; Stojan Peric; Deepa Krishnakumar; Sniya Sudhakar; Aileen Reghan Foley; Sarah Silverstein; Ganka Douglas; Lynn Pais; Stephanie DiTroia; Christopher Grunseich; Ying Hu; Caroline Sewry; Anna Sarkozy; Volker Straub; Francesco Muntoni; Tracey Rouault; Carsten Gerhart Bönnemann
Academic Journal
Voisin, Norine ; Schnur, Rhonda E. ; Douzgou, Sofia ; Hiatt, Susan M. ; Rustad, Cecilie F. ; Brown, Natasha J. ; Earl, Dawn L. ; Keren, Boris ; Levchenko, Olga ; Geuer, Sinje ; Verheyen, Sarah ; Johnson, Diana ; Zarate, Yuri A. ; Hančárová, Miroslava ; Amor, David J. ; Bebin, E. Martina ; Blatterer, Jasmin ; Brusco, Alfredo ; Cappuccio, Gerarda ; Charrow, Joel ; Chatron, Nicolas ; Cooper, Gregory M. ; Courtin, Thomas ; Dadali, Elena ; Delafontaine, Julien ; Del Giudice, Ennio ; Doco, Martine ; Douglas, Ganka ; Eisenkölbl, Astrid ; Funari, Tara ; Giannuzzi, Giuliana ; Gruber-Sedlmayr, Ursula ; Guex, Nicolas ; Heron, Delphine ; Holla, Øystein L. ; Hurst, Anna C.E. ; Juusola, Jane ; Kronn, David ; Lavrov, Alexander ; Lee, Crystle ; Lorrain, Séverine ; Merckoll, Else ; Mikhaleva, Anna ; Norman, Jennifer ; Pradervand, Sylvain ; Prchalová, Darina ; Rhodes, Lindsay ; Sanders, Victoria R. ; Sedláček, Zdeněk ; Seebacher, Heidelis A. ; Sellars, Elizabeth A. ; Sirchia, Fabio ; Takenouchi, Toshiki ; Tanaka, Akemi J. ; Taska-Tench, Heidi ; Tønne, Elin ; Tveten, Kristian ; Vitiello, Giuseppina ; Vlčková, Markéta ; Uehara, Tomoko ; Nava, Caroline ; Yalcin, Binnaz ; Kosaki, Kenjiro ; Donnai, Dian ; Mundlos, Stefan ; Brunetti-Pierri, Nicola ; Chung, Wendy K. ; Reymond, Alexandre
In The American Journal of Human Genetics 6 May 2021 108(5):857-873
Academic Journal
Anne Slavotinek; Doriana Misceo; Stephanie Htun; Linda Mathisen; Eirik Frengen; Michelle Foreman; Jennifer E Hurtig; Liz Enyenihi; Maria C Sterrett; Sara W Leung; Dina Schneidman-Duhovny; Juvianee Estrada-Veras; Jacque L Duncan; Charlotte A Haaxma; Erik-Jan Kamsteeg; Vivian Xia; Daniah Beleford; Yue Si; Ganka Douglas; Hans Einar Treidene; Ambro van Hoof; Milo B Fasken; Anita H Corbett
Human Molecular Genetics, 29, 13, pp. 2218-2239
Human Molecular Genetics, vol 29, iss 13
Human Molecular Genetics, vol 29, iss 13
Academic Journal
Wang, Wei; Henderson, Lindsay; Scuffins, Julie; Dyer, Lisa; Dyer, Lindsay Havens; Douglas, Ganka; Monaghan, Kristin; Morrow, Michelle; Matyakhina, Ludmila
Genetics in Medicine Open. 1(1)
Academic Journal
Douglas, Ganka; Meck, Jeanne; Dyer, Lindsay Havens; Brandon, Rhonda; Dyer, Lisa; Ferri, Patricia Fernandez; Liao, Mingjuan; Liu, Shuxi; Matyakhina, Ludmila; Rajcan-Separovic, Evica; Sack, Laura; Sanyoura, May; Wang, Wei; Kruszka, Paul
Genetics in Medicine Open. 1(1)
Academic Journal
Mattioli, Francesca ; Hayot, Gaelle ; Drouot, Nathalie ; Isidor, Bertrand ; Courraud, Jérémie ; Hinckelmann, Maria-Victoria ; Mau-Them, Frederic Tran ; Sellier, Chantal ; Goldman, Alica ; Telegrafi, Aida ; Boughton, Alicia ; Gamble, Candace ; Moutton, Sebastien ; Quartier, Angélique ; Jean, Nolwenn ; Van Ness, Paul ; Grotto, Sarah ; Nambot, Sophie ; Douglas, Ganka ; Si, Yue Cindy ; Chelly, Jamel ; Shad, Zohra ; Kaplan, Elisabeth ; Dineen, Richard ; Golzio, Christelle ; Charlet-Berguerand, Nicolas ; Mandel, Jean-Louis ; Piton, Amélie
In The American Journal of Human Genetics 2 April 2020 106(4):438-452
Academic Journal
Hanyin Cheng; Simona Capponi; Emma Wakeling; Elaine Marchi; Quan Li; Mengge Zhao; Chunhua Weng; Stefan G. Piatek; Helena Ahlfors; Robert Kleyner; Alan Rope; Aimé Lumaka; Prosper Lukusa; Koenraad Devriendt; Joris Vermeesch; Jennifer E. Posey; Elizabeth E. Palmer; Lucinda Murray; Eyby Leon; Jullianne Diaz; Lisa Worgan; Amali Mallawaarachchi; Julie Vogt; Sonja A. Munnik; Lauren Dreyer; Gareth Baynam; Lisa Ewans; Zornitza Stark; Sebastian Lunke; Ana R. Gonçalves; Gabriela Soares; Jorge Oliveira; Emily Fassi; Marcia Willing; Jeff L. Waugh; Laurence Faivre; Jean‐Baptiste Riviere; Sebastien Moutton; Shehla Mohammed; Katelyn Payne; Laurence Walsh; Amber Begtrup; Maria J. Guillen Sacoto; Ganka Douglas; Nora Alexander; Michael F. Buckley; Paul R. Mark; Lesley C. Adès; Sarah A. Sandaradura; James R. Lupski; Tony Roscioli; Pankaj B. Agrawal; Antonie D. Kline; Kai Wang; H. T. Marc Timmers; Gholson J. Lyon
Human Mutation. 41:449-464
Academic Journal
Paige B. Martin; Yu Kigoshi-Tansho; Roger B. Sher; Gianina Ravenscroft; Jennifer E. Stauffer; Rajesh Kumar; Ryo Yonashiro; Tina Müller; Christopher Griffith; William Allen; Davut Pehlivan; Tamar Harel; Martin Zenker; Denise Howting; Denny Schanze; Eissa A. Faqeih; Naif A. M. Almontashiri; Reza Maroofian; Henry Houlden; Neda Mazaheri; Hamid Galehdari; Ganka Douglas; Jennifer E. Posey; Monique Ryan; James R. Lupski; Nigel G. Laing; Claudio A. P. Joazeiro; Gregory A. Cox
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Academic Journal
Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E. ; Zhu, Zehua ; Afenjar, Alexandra ; Anderson, Ilse. J. ; Andrews, Marisa V. ; Atkinson, Celia ; Au, Margaret ; Berry, Susan A. ; Bowling, Kevin M. ; Boyle, Jackie ; Buratti, Julien ; Cathey, Sara S. ; Charles, Perrine ; Cogne, Benjamin ; Courtin, Thomas ; Escobar, Luis F. ; Finley, Sabra Ledare ; Graham, John M., Jr. ; Grange, Dorothy K. ; Heron, Delphine ; Hewson, Stacy ; Hiatt, Susan M. ; Hibbs, Kathleen A. ; Jayakar, Parul ; Kalsner, Louisa ; Larcher, Lise ; Lesca, Gaetan ; Mark, Paul R. ; Miller, Kathryn ; Nava, Caroline ; Nizon, Mathilde ; Pai, G. Shashidhar ; Pappas, John ; Parsons, Gretchen ; Payne, Katelyn ; Putoux, Audrey ; Rabin, Rachel ; Sabatier, Isabelle ; Shinawi, Marwan ; Shur, Natasha ; Skinner, Steven A. ; Valence, Stephanie ; Warren, Hannah ; Whalen, Sandra ; Crunk, Amy ; Douglas, Ganka ; Monaghan, Kristin G. ; Person, Richard E. ; Willaert, Rebecca ; Solomon, Benjamin D. ; Juusola, Jane
In Genetics in Medicine September 2019 21(9):2036-2042
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
Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy ; Muir, Alison M. ; Cintrón, Dianne Laboy ; McWalter, Kirsty ; Cho, Megan T. ; Sun, Angela ; Merritt, J. Lawrence ; Thies, Jenny ; Niyazov, Dmitriy ; Burton, Barbara ; Kim, Katherine ; Fleming, Leah ; Westman, Rachel ; Karachunski, Peter ; Dalton, Joline ; Basinger, Alice ; Ficicioglu, Can ; Helbig, Ingo ; Pendziwiat, Manuela ; Muhle, Hiltrud ; Helbig, Katherine L. ; Caliebe, Almuth ; Santer, René ; Becker, Kolja ; Suchy, Sharon ; Douglas, Ganka ; Millan, Francisca ; Begtrup, Amber ; Monaghan, Kristin G. ; Mefford, Heather C.
In Genetics in Medicine March 2019 21(3):601-607
Academic Journal
Lot Snijders Blok; Justine Rousseau; Joanna Twist; Sophie Ehresmann; Motoki Takaku; Hanka Venselaar; Lance H. Rodan; Catherine B. Nowak; Jessica Douglas; Kathryn J. Swoboda; Marcie A. Steeves; Inderneel Sahai; Connie T. R. M. Stumpel; Alexander P. A. Stegmann; Patricia Wheeler; Marcia Willing; Elise Fiala; Aaina Kochhar; William T. Gibson; Ana S. A. Cohen; Ruky Agbahovbe; A. Micheil Innes; P. Y. Billie Au; Julia Rankin; Ilse J. Anderson; Steven A. Skinner; Raymond J. Louie; Hannah E. Warren; Alexandra Afenjar; Boris Keren; Caroline Nava; Julien Buratti; Arnaud Isapof; Diana Rodriguez; Raymond Lewandowski; Jennifer Propst; Ton van Essen; Murim Choi; Sangmoon Lee; Jong H. Chae; Susan Price; Rhonda E. Schnur; Ganka Douglas; Ingrid M. Wentzensen; Christiane Zweier; André Reis; Martin G. Bialer; Christine Moore; Marije Koopmans; Eva H. Brilstra; Glen R. Monroe; Koen L. I. van Gassen; Ellen van Binsbergen; Ruth Newbury-Ecob; Lucy Bownass; Ingrid Bader; Johannes A. Mayr; Saskia B. Wortmann; Kathy J. Jakielski; Edythe A. Strand; Katja Kloth; Tatjana Bierhals; The DDD study; John D. Roberts; Robert M. Petrovich; Shinichi Machida; Hitoshi Kurumizaka; Stefan Lelieveld; Rolph Pfundt; Sandra Jansen; Pelagia Deriziotis; Laurence Faivre; Julien Thevenon; Mirna Assoum; Lawrence Shriberg; Tjitske Kleefstra; Han G. Brunner; Paul A. Wade; Simon E. Fisher; Philippe M. Campeau
Nature Communications, Vol 10, Iss 1, Pp 1-4 (2019)
Academic Journal
Thompson, Eliza; Abdalla, Ebtesam; Superti-Furga, Andrea; McAlister, William; Kratz, Lisa; Unger, Sheila; Royer-Bertrand, Beryl; Campos-Xavier, Belinda; Mittaz-Crettol, Laureane; Amin, Asmaa K.; DeSanto, Cori; Wilson, David B.; Douglas, Ganka; Kozel, Beth; Shinawi, Marwan
Bone. 120:354-363
Academic Journal
Volkan Okur; Megan T. Cho; Richard van Wijk; Brigitte van Oirschot; Jonathan Picker; Stephanie A. Coury; Dorothy Grange; Linda Manwaring; Ian Krantz; Colleen Clark Muraresku; Peter J. Hulick; Holley May; Eric Pierce; Emily Place; Kinga Bujakowska; Aida Telegrafi; Ganka Douglas; Kristin G. Monaghan; Amber Begtrup; Ashley Wilson; Kyle Retterer; Kwame Anyane-Yeboa; Wendy K. Chung
European Journal of Human Genetics. 27:1081-1089
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