학술논문
'학술논문'
에서 검색결과 58건 | 목록
1~10
Academic Journal
Muschol, Nicole M.; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica; Jayakar, Parul; Lund, Allan; Tal, Galit; Garcia, Jose E.; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian; Scarpa, Maurizio; Sutton, V. Reid; Guffon, Nathalie
In Molecular Genetics and Metabolism February 2024 141(2)
Academic Journal
Aldinger, Kimberly A.; Timms, Andrew E.; Thomson, Zachary; Mirzaa, Ghayda M.; Bennett, James T.; Rosenberg, Alexander B.; Roco, Charles M.; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi V.; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M.; Alkuraya, Fowzan S.; Biesecker, Leslie G.; Braddock, Stephen R.; Cathey, Sara; Cho, Megan T.; Chung, Brian H.Y.; Everman, David B.; Zarate, Yuri A.; Jones, Julie R.; Schwartz, Charles E.; Goldstein, Amy; Hopkin, Robert J.; Krantz, Ian D.; Ladda, Roger L.; Leppig, Kathleen A.; McGillivray, Barbara C.; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G.; Nickerson, Deborah A.; Bamshad, Michael J.; Gerrelli, Dianne; Lisgo, Steven N.; Seelig, Georg; Ishak, Gisele E.; Barkovich, A. James; Curry, Cynthia J.; Glass, Ian A.; Millen, Kathleen J.; Doherty, Dan; Dobyns, William B.
In The American Journal of Human Genetics 5 September 2019 105(3):606-615
Academic Journal
Reed, Emily M X; Cathey, Sara; Braswell, Cameron; Agarwal, Prashasti; Barney, Jacob N; Brown, Bryan L; Heminger, Ariel; Kianmehr, Ayda; Salom, Scott; Schenk, Todd; Sharma, Gourav; Haak, David C
Academic Journal
Wang, Jiyong; Hamid, Rasikh; Lyons, Michael; Champaigne, Neena; Eloise, Prijoles; Everman, David; Rogers, Curtis; Stolerman, Elliot; Clarkson, Katie; Cathey, Sara; Hilton, Benjamin; DuPont, Barbara
Academic Journal
In Journal of AAPOS 2010 14(1):e27-e28
Academic Journal
Clinical Chemistry; Dec2018, Vol. 64 Issue 12, p1772-1779, 8p, 3 Charts, 3 Graphs
Academic Journal
Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Wong, Jonathan T.S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Scheuerle, Angela E.; Cathey, Sara; Kok, Fernando; Gibson, James B.; Freeze, Hudson H.
Human Mutation. Nov 01, 2015 36(11):1048-1051
Academic Journal
Wang, Jiyong; Hamid, Rasikh; Lyons, Michael; Champaigne, Neena; Eloise, Prijoles; Everman, David; Rogers, Curtis; Stolerman, Elliot; Clarkson, Katie; Cathey, Sara; Hilton, Benjamin; DuPont, Barbara
Academic Journal
Mooneyham, Kathryn Anne; Holden, Kenton R.; Cathey, Sara; Dwivedi, Alka; Dupont, Barbara R.; Lyons, Michael J.
American Journal Of Medical Genetics - A. Nov 01, 2014 164(11):2887-2891
Academic Journal
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[AR] Cathey, Sara
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