학술논문
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'학술논문'
에서 검색결과 148건 | 목록
1~20
Academic Journal
In Pediatric Neurology February 2026 175:223-228
Academic Journal
Antonicka, Hana ; Weraarpachai, Woranontee ; Szigety, Katherine M. ; Kopajtich, Robert ; Gibson, James B. ; Van Hove, Johan L.K. ; Friederich, Marisa W. ; Lopriore, Piervito ; Neuhofer, Christiane ; Van Hove, Roxanne A. ; Cole, Michel A. ; Reisdorph, Richard ; Peterson, James T. ; Dempsey, Katherine J. ; Ganetzky, Rebecca D. ; Mancuso, Michelangelo ; Prokisch, Holger ; Shoubridge, Eric A.
In The American Journal of Human Genetics 3 July 2025 112(7):1699-1710
Academic Journal
Zerafati-Jahromi, Gazelle ; Oxman, Elias ; Hoang, Hieu D. ; Charng, Wu-Lin ; Kotla, Tanvitha ; Yuan, Weimin ; Ishibashi, Keito ; Sebaoui, Sonia ; Luedtke, Kathryn ; Winrow, Bryce ; Ganetzky, Rebecca D. ; Ruiz, Anna ; Manso-Basúz, Carmen ; Spataro, Nino ; Kannu, Peter ; Athey, Taryn ; Peroutka, Christina ; Barnes, Caitlin ; Sidlow, Richard ; Anadiotis, George ; Magnussen, Kari ; Valenzuela, Irene ; Moles-Fernandez, Alejandro ; Berger, Seth ; Grant, Christina L. ; Vilain, Eric ; Arnadottir, Gudny A. ; Sulem, Patrick ; Sulem, Telma S. ; Stefansson, Kari ; Massey, Shavonne ; Ginn, Natalie ; Poduri, Annapurna ; D’Gama, Alissa M. ; Valentine, Rozalia ; Trowbridge, Sara K. ; Murali, Chaya N. ; Franciskovich, Rachel ; Tran, Yen ; Webb, Bryn D. ; Keppler-Noreuil, Kim M. ; Hall, April L. ; McGivern, Bobbi ; Monaghan, Kristin G. ; Guillen Sacoto, Maria J. ; Baldridge, Dustin ; Silverman, Gary A. ; Dahiya, Sonika ; Turner, Tychele N. ; Schedl, Tim ; Corbin, Joshua G. ; Pak, Stephen C. ; Zohn, Irene E. ; Gurnett, Christina A.
In The American Journal of Human Genetics 6 March 2025 112(3):537-553
Academic Journal
Christian, Thomas ; Maharjan, Sunita ; Yin, Sitao ; Yamaki, Yuka ; Masuda, Isao ; Li, Fenglin ; Muraresku, Colleen ; Clever, Sheila ; Ganetzky, Rebecca D. ; Hou, Ya-Ming
In Journal of Biological Chemistry January 2025 301(1)
Academic Journal
In Journal of Mass Spectrometry and Advances in the Clinical Lab January 2024 31:49-58
Academic Journal
Wongkittichote, Parith ; Pantano, Cassandra ; Bogush, Emily ; Alves, Cesar Augusto P. ; Hong, Xinying ; He, Miao ; Demczko, Matthew M. ; Ganetzky, Rebecca D. ; Goldstein, Amy
In Molecular Genetics and Metabolism September-October 2023 140(1-2)
Academic Journal
Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler-Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia
In Genetics in Medicine June 2023 25(6)
Academic Journal
MacMullen, Laura E.; Reynolds, Elizabeth; Weis, Marissa; George-Sankoh, Ibrahim; Nguyen, Sara; Stanley, Katelynn D.; Redko, Mariya; Poblete, Maria; Goldstein, Amy C.; Ganetzky, Rebecca D.
Academic Journal
Whittle, Ella F. ; Chilian, Madison ; Karimiani, Ehsan Ghayoor ; Progri, Helga ; Buhas, Daniela ; Kose, Melis ; Ganetzky, Rebecca D. ; Toosi, Mehran Beiraghi ; Torbati, Paria Najarzadeh ; Badv, Reza Shervin ; Shelihan, Ivan ; Yang, Hui ; Elloumi, Houda Zghal ; Lee, Sukyeong ; Jamshidi, Yalda ; Pittman, Alan M. ; Houlden, Henry ; Ignatius, Erika ; Rahman, Shamima ; Maroofian, Reza ; Yoon, Wan Hee ; Carroll, Christopher J.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Priestley, Jessica R.C. ; Pace, Lisa M. ; Sen, Kuntal ; Aggarwal, Anjali ; Alves, Cesar Augusto P.F. ; Campbell, Ian M. ; Cuddapah, Sanmati R. ; Engelhardt, Nicole M. ; Eskandar, Marina ; Jolín García, Paloma C. ; Gropman, Andrea ; Helbig, Ingo ; Hong, Xinying ; Gowda, Vykuntaraju K. ; Lusk, Laina ; Trapane, Pamela ; Srinivasan, Varunvenkat M. ; Suwannarat, Pim ; Ganetzky, Rebecca D.
In Molecular Genetics and Metabolism Reports December 2022 33
Academic Journal
Elander, Johanna ; McCormick, Elizabeth M. ; Värendh, Maria ; Stenfeldt, Karin ; Ganetzky, Rebecca D. ; Goldstein, Amy ; Zolkipli-Cunningham, Zarazuela ; MacMullen, Laura E. ; Xiao, Rui ; Falk, Marni J. ; Ehinger, Johannes K.
In Molecular Genetics and Metabolism November 2022 137(3):230-238
Academic Journal
Qi, Cai ; Feng, Irena ; Costa, Ana Rita ; Pinto-Costa, Rita ; Neil, Jennifer E. ; Caluseriu, Oana ; Li, Dong ; Ganetzky, Rebecca D. ; Brasch-Andersen, Charlotte ; Fagerberg, Christina ; Hansen, Lars Kjærsgaard ; Bupp, Caleb ; Muraresku, Colleen Clarke ; Ruan, Xiangbin ; Kang, Bowei ; Hu, Kaining ; Zhong, Rong ; Brites, Pedro ; Bhoj, Elizabeth J. ; Hill, Robert Sean ; Falk, Marni J. ; Hakonarson, Hakon ; Kahle, Kristopher T. ; Sousa, Monica M. ; Walsh, Christopher A. ; Zhang, Xiaochang
In Genetics in Medicine February 2022 24(2):319-331
Academic Journal
Wang, Jing ; Balciuniene, Jorune ; Diaz-Miranda, Maria Alejandra ; McCormick, Elizabeth M. ; Aref-Eshghi, Erfan ; Muir, Alison M. ; Cao, Kajia ; Troiani, Juliana ; Moseley, Alicia ; Fan, Zhiqian ; Zolkipli-Cunningham, Zarazuela ; Goldstein, Amy ; Ganetzky, Rebecca D. ; Muraresku, Colleen C. ; Peterson, James T. ; Spinner, Nancy B. ; Wallace, Douglas C. ; Dulik, Matthew C. ; Falk, Marni J.
In Molecular Genetics and Metabolism January 2022 135(1):93-101
Academic Journal
In Molecular Genetics and Metabolism September-October 2021 134(1-2):37-42
Academic Journal
Demczko, Matthew M. ; Ganetzky, Rebecca D. ; Tormey, Cassandra ; Ku, Brandon C. ; Blowey, Bridget ; Lavelle, Jane ; Goldstein, Amy
In Molecular Genetics and Metabolism April 2025 144(4)
Academic Journal
In Molecular Genetics and Metabolism March 2018 123(3):301-308
Academic Journal
McCormack, Shana E. ; Xiao, Rui ; Kilbaugh, Todd J. ; Karlsson, Michael ; Ganetzky, Rebecca D. ; Cunningham, Zarazuela Zolkipli ; Goldstein, Amy ; Falk, Marni J. ; Damrauer, Scott M.
In Molecular Genetics and Metabolism June 2017 121(2):119-126
Academic Journal
Kilich, Gonench; Jadhav, Tanaya; Maurer, Kelly; Breen, Christopher; Jammihal, Tejas; Schindewolf, Erica; Ganetzky, Rebecca D.; Vanderver, Adeline; Skraban, Cara; Rajagopalan, Ramakrishnan; Sullivan, Kathleen E.
Academic Journal
Kuery, Sebastien; Stanton, Janelle E.; van Woerden, Geeske M.; Bosc-Rosati, Amelie; Hsieh, Tzung-Chien; Bray, Lise; Oloude, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J.; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M.; Thiel, Franziska G.; Wolfgramm, Sophie; Florenceau, Laetitia; Cuinat, Silvestre; Marsac, Sylvain; Verres, Yann; Dangoumau, Audrey; Poirier, Lea; Wentzensen, Ingrid M.; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A.; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G.; Mullegama, Sureni V.; Volker-Touw, Catharina M. L. Nienke; van Gassen, Koen L. I.; Oegema, Renske; de Pagter, Mirjam S.; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V.; Bernier, Raphael A.; Turner, Tychele N.; Srivastava, Siddharth; Dies, Kira A.; Swanson, Lindsay C.; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K.; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B.; Malicdan, May Christine V.; Adams, David R.; Wolfe, Lynne; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Babikyan, Davit; Sedlacek, Zdenek; Hancarova, Miroslava; Timberlake, Andrew T.; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M. J.; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Genevieve, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J.; Bryson, Lisa J.; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L.; Cueto-Gonzalez, Anna M.; Tizzano, Eduardo F.; Gomez-Andres, David; Codina-Sola, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlene; Levy, Jonathan; Langas, Sarah J.; McRae, Anne M.; Lessard, Mathieu K.; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B.; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L.; Schroeder, Molly C.; Gooch, Catherine; Smith, Raphael A.; Pandya, Arti; Busch, Larissa M.; Voelker, Uwe; Hammer, Elke; Wende, Kristian; Cogne, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clementine; Bigou, Stephanie; Laumonnier, Frederic; Hildebrand, Peter W.; Eichler, Evan E.; McWalter, Kirsty; Krawitz, Peter M.; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M.; Bolduc, Francois V.; Bezieau, Stephane; Ebstein, Frederic; Krueger, Elke
Academic Journal
Ivaniuk, Alina; Anselm, Irina A.; Bowen, Aaron; Cohen, Bruce H.; Eminoglu, Fatma Tuba; Estrella, Jane; Gallagher, Renata C.; Ganetzky, Rebecca D.; Gannon, Jennifer; Gorman, Grainne S.; Greene, Carol; Gropman, Andrea L.; Haas, Richard H.; Hirano, Michio; Kapoor, Seema; Karaa, Amel; Koenig, Mary Kay; Kornblum, Cornelia; Kose, Engin; Larson, Austin
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[AR] Ganetzky, Rebecca D.
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