학술논문
'학술논문'
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1~10
Academic Journal
Claire Hou, Ying-Chen; Evenson, Michael J.; Corliss, Meagan M.; Mahapatra, Lily; Aldawood, Ali; Carpentieri, David F.; Chamlin, Sarah L.; Kulungowski, Ann M.; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Pet, Mitchell A.; Coughlin, Carrie C.; Willing, Marcia C.; Pearson, Gregory D.; Setty, Bhuvana A.; El-Haffaf, Zaki; Cottrell, Catherine E.; Parikh, Bijal A.; Krysiak, Kilannin; Schroeder, Molly C.; Heusel, Jonathan W.; Neidich, Julie A.; Cao, Yang
In Genetics in Medicine March 2023 25(3)
Academic Journal
Eichenberger Gilmore, Julie M.; Pauley, Cynthia A.; Burns, Trudy L.; Torner, James C.; Letuchy, Elena M.; Janz, Kathleen F.; Willing, Marcia C.; Levy, Steven M.
In Journal of Clinical Densitometry 2010 13(4):361-369
Academic Journal
Villamizar, Carlos; Regalado, Ellen S.; Fadulu, Van Tran; Hasham, Sumera N.; Gupta, Prateek; Willing, Marcia C.; Kuang, Shao-Qing; Guo, Dongchuan; Muilenburg, Ann; Yee, Richard W.; Fan, Yuxin; Towbin, Jeffrey; Coselli, Joseph S.; LeMaire, Scott A.; Milewicz, Dianna M.
In European Journal of Medical Genetics 2010 53(2):80-84
Academic Journal
Rosano, Kristen K.; Wegner, Daniel J.; Shinawi, Marwan; Baldridge, Dustin; Bucelli, Robert C.; Dahiya, Sonika; White, Frances V.; Willing, Marcia C.; McAllister, William; Taft, Ryan J.; Bluske, Krista; Buchanan, Amanda; Cole, Francis Sessions; Wambach, Jennifer A.
American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2190-2197, 8p
Academic Journal
Hou, Ying-Chen Claire; Evenson, Michael J.; Corliss, Meagan M.; Mahapatra, Lily; Aldawood, Ali; Carpentieri, David F.; Chamlin, Sarah L.; Kulungowski, Ann M.; Madan-Khetarpal, Suneeta; Sebastian, Jessica; Pet, Mitchell A.; Coughlin, Carrie C.; Willing, Marcia C.; Pearson, Gregory D.; Setty, Bhuvana A.; El-Haffaf, Zaki; Cottrell, Catherine E.; Parikh, Bijal A.; Krysiak, Kilannin; Schroeder, Molly C.; Heusel, Jonathan W.; Neidich, Julie A.; Cao, Yang
Academic Journal
van Meel, Eline; Wegner, Daniel J.; Cliften, Paul; Willing, Marcia C.; White, Frances V.; Kornfeld, Stuart; Cole, F. Sessions
Academic Journal
Wambach, Jennifer A.; Wegner, Daniel J.; Patni, Nivedita; Kircher, Martin; Willing, Marcia C.; Baldridge, Dustin; Xing, Chao; Agarwal, Anil K.; Vergano, Samantha A. Schrier; Patel, Chirag; Grange, Dorothy K.; Kenney, Amy; Najaf, Tasnim; Nickerson, Deborah A.; Bamshad, Michael J.; Cole, F. Sessions; Garg, Abhimanyu
Academic Journal
Platzer, Konrad; Hongjie Yuan; Schütz, Hannah; Winschel, Alexander; Wenjuan Chen; Chun Hu; Hirofumi Kusumoto; Heyne, Henrike O.; Helbig, Katherine L.; Sha Tang; Willing, Marcia C.; Tinkle, Brad T.; Adams, Darius J.; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Döcker, Dennis
Journal of Medical Genetics; Jul2017, Vol. 54 Issue 7, p460-470, 11p
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Academic Journal
Lovric, Svjetlana; Goncalves, Sara; Gee, Heon Yung; Oskouian, Babak; Srinivas, Honnappa; Choi, Won-Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; Braun, Daniela A.; Sadowski, Carolin E.; Widmeier, Eugen; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Girik, Vladimir; Capitani, Guido; Suh, Jung H.; Lachaussée, Noëlle; Arrondel, Christelle; Patat, Julie; Gribouval, Olivier; Furlano, Monica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; Bernier, Francois P.; Innes, A. Micheil; Parboosingh, Jillian S.; Lamont, Ryan E.; Midgley, Julian P.; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuss, Navina; Greil, Johann; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Schanze, Denny; Franke, Ingolf; Sznajer, Yves; Truant, Anne S.; Adams, Brigitte; Désir, Julie; Biemann, Ronald; Pei, York; Ars, Elisabet; Lloberas, Nuria; Madrid, Alvaro; Dharnidharka, Vikas R.; Connolly, Anne M.; Willing, Marcia C.; Cooper, Megan A.; Lifton, Richard P.; Simons, Matias; Riezman, Howard; Antignac, Corinne; Saba, Julie D.; Hildebrandt, Friedhelm
Journal of Clinical Investigation. Mar 01, 2017 127(3):912-928
Academic Journal
Shaffer, John R.; Carlson, Jenna C.; Stanley, Brooklyn O.C.; Feingold, Eleanor; Cooper, Margaret; Vanyukov, Michael M.; Maher, Brion S.; Slayton, Rebecca L.; Willing, Marcia C.; Reis, Steven E.; McNeil, Daniel W.; Crout, Richard J.; Weyant, Robert J.; Levy, Steven M.; Vieira, Alexandre R.; Marazita, Mary L.
Human Genetics. February 1, 2015, p159, 9 p.
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[AR] Willing, Marcia C.
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