학술논문
'학술논문'
에서 검색결과 55건 | 목록
10~20
Periodical
Mahajan, Sonal; Ng, Bobby George; AlAbdi, Lama; Earnest, Paul Daniel James; Sosicka, Paulina; Patel, Nisha; Helaby, Rana; Abdulwahab, Firdous; He, Miao; Alkuraya, Fowzan S; Freeze, Hudson H
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p627-635, 9p
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
American Journal of Human Genetics. 102(1)
Academic Journal
Wilson, Matthew P; Durin, Zoé; Unal, Özlem; Ng, Bobby G; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gündüz, Mehmet; Köse, Gülşen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H; Jaeken, Jaak; Foulquier, François; Matthijs, Gert
Human Molecular Genetics; 8/1/2022, Vol. 31 Issue 15, p2571-2581, 11p
Academic Journal
Simon, Mariella T; Ng, Bobby G; Friederich, Marisa W; Wang, Raymond Y; Boyer, Monica; Kircher, Martin; Collard, Renata; Buckingham, Kati J; Chang, Richard; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J; Genomics, University of Washington Center for Mendelian; Van Hove, Johan LK; Freeze, Hudson H; Abdenur, Jose E
Academic Journal
Ng, Bobby G; Shiryaev, Sergey A; Rymen, Daisy; Eklund, Erik A; Raymond, Kimiyo; Kircher, Martin; Abdenur, Jose E; Alehan, Fusun; Midro, Alina T; Bamshad, Michael J; Barone, Rita; Berry, Gerard T; Brumbaugh, Jane E; Buckingham, Kati J; Clarkson, Katie; Cole, F Sessions; O'Connor, Shawn; Cooper, Gregory M; Coster, Rudy; Demmer, Laurie A; Diogo, Luisa; Fay, Alexander J; Ficicioglu, Can; Fiumara, Agata; Gahl, William A; Ganetzky, Rebecca; Goel, Himanshu; Harshman, Lyndsay A; He, Miao; Jaeken, Jaak; James, Philip M; Katz, Daniel; Keldermans, Liesbeth; Kibaek, Maria; Kornberg, Andrew J; Lachlan, Katherine; Lam, Christina; Yaplito‐Lee, Joy; Nickerson, Deborah A; Peters, Heidi L; Race, Valerie; Régal, Luc; Rush, Jeffrey S; Rutledge, S Lane; Shendure, Jay; Souche, Erika; Sparks, Susan E; Trapane, Pamela; Sanchez‐Valle, Amarilis; Vilain, Eric; Vøllo, Arve; Waechter, Charles J; Wang, Raymond Y; Wolfe, Lynne A; Wong, Derek A; Wood, Tim; Yang, Amy C; Genomics, University of Washington Center for Mendelian; Matthijs, Gert; Freeze, Hudson H
Human Mutation. 37(7)
Academic Journal
Varki, Ajit; Cummings, Richard D; Aebi, Markus; Packer, Nicole H; Seeberger, Peter H; Esko, Jeffrey D; Stanley, Pamela; Hart, Gerald; Darvill, Alan; Kinoshita, Taroh; Prestegard, James J; Schnaar, Ronald L; Freeze, Hudson H; Marth, Jamey D; Bertozzi, Carolyn R; Etzler, Marilynn E; Frank, Martin; Vliegenthart, Johannes Fg; Lütteke, Thomas; Perez, Serge; Bolton, Evan; Rudd, Pauline; Paulson, James; Kanehisa, Minoru; Toukach, Philip; Aoki-Kinoshita, Kiyoko F; Dell, Anne; Narimatsu, Hisashi; York, William; Taniguchi, Naoyuki; Kornfeld, Stuart
Glycobiology. 25(12)
Academic Journal
Enns, Gregory M; Shashi, Vandana; Bainbridge, Matthew; Gambello, Michael J; Zahir, Farah R; Bast, Thomas; Crimian, Rebecca; Schoch, Kelly; Platt, Julia; Cox, Rachel; Bernstein, Jonathan A; Scavina, Mena; Walter, Rhonda S; Bibb, Audrey; Jones, Melanie; Hegde, Madhuri; Graham, Brett H; Need, Anna C; Oviedo, Angelica; Schaaf, Christian P; Boyle, Sean; Butte, Atul J; Chen, Rong; Clark, Michael J; Haraksingh, Rajini; Cowan, Tina M; He, Ping; Langlois, Sylvie; Zoghbi, Huda Y; Snyder, Michael; Gibbs, Richard A; Freeze, Hudson H; Goldstein, David B
Genetics in Medicine. 16(10)
Periodical
Shimada, Shino; Ng, Bobby G; White, Amy L; Nickander, Kim K; Turgeon, Coleman; Liedtke, Kristen L; Lam, Christina T; Font-Montgomery, Esperanza; Lourenco, Charles M; He, Miao; Peck, Dawn S; Umana, Luis A; Uhles, Crescenda L; Haynes, Devon; Wheeler, Patricia G; Bamshad, Michael J; Nickerson, Deborah A; Cushing, Tom; Gates, Ryan; Gomez-Ospina, Natalia; Byers, Heather M; Scalco, Fernanda B; Martinez, Noelia N; Sachdev, Rani; Smith, Lacey; Poduri, Annapurna; Malone, Stephen; Harris, Rebekah V; Scheffer, Ingrid E; Rosenzweig, Sergio D; Adams, David R; Gahl, William A; Malicdan, May Christine V; Raymond, Kimiyo M; Freeze, Hudson H; Wolfe, Lynne A
Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 11 p1104-1115, 12p
Academic Journal
Hansen, Lars; Husein, Diab M; Gericke, Birthe; Hansen, Torben; Pedersen, Oluf; Tambe, Mitali A; Freeze, Hudson H; Naim, Hassan Y; Henrissat, Bernard; Wandall, Hans H; Clausen, Henrik; Bennett, Eric P
Academic Journal
Harshman, Lyndsay A; Ng, Bobby G; Freeze, Hudson H; Trapane, Pamela; Dolezal, Anna; Brophy, Patrick D; Brumbaugh, Jane E
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[AR] Freeze, Hudson H
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