학술논문
'학술논문'
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1~10
Academic Journal
Posset, Roland; Garbade, Sven F; Boy, Nikolas; Burlina, Alberto B; Dionisi‐Vici, Carlo; Dobbelaere, Dries; Garcia‐Cazorla, Angeles; de Lonlay, Pascale; Teles, Elisa Leão; Vara, Roshni; Mew, Nicholas Ah; Batshaw, Mark L; Baumgartner, Matthias R; McCandless, Shawn E; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F; Kölker, Stefan; Burgard, Peter; Berry, Susan A; Burrage, Lindsay; Coughlin, Curtis; Diaz, George A; Gallagher, Renata C; Gropman, Andrea; Harding, Cary O; Lee, Brendan; Le Mons, Cynthia; Lawrence Merritt, J; Nagamani, Sandesh CS; Schulze, Andreas; Stricker, Tamar; Tuchman, Mendel; Waisbren, Susan; WeisfeldAdams, James; Wong, Derek; Yudkoff, Marc; Arnoux, JeanBaptiste; Barić, Ivo; Bosch, Annet M; Chabrol, Brigitte; Chakrapani, Anupam; CortèsSaladefont, Elisenda; Couce, Maria L; Eyskens, Francois; Laet, Corine; Meirleir, Linda; Freisinger, Peter; Gleich, Florian; Grünewald, Stephanie; Häberle, Johannes; Hwu, WuhLiang; Jalan, Anil; Karall, Daniela; Lindner, Martin; Lund, Allan M; Martinelli, Diego; Murphy, Elaine; Mühlhausen, Chris; Olivieri, Giorgia; Ottolenghi, Chris; Rodrigues, Esmeralda; Rubert, Laura; Sarajlija, Adrijan; Schiff, Manuel; Sokal, Etienne; SykutCegielska, Jolanta; Walter, John H; Williams, Monique; Zeman, Jiri
Journal of Inherited Metabolic Disease. 42(1)
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
Nagamani, Sandesh CS; Diaz, George A; Rhead, William; Berry, Susan A; Le Mons, Cynthia; Lichter-Konecki, Uta; Bartley, James; Feigenbaum, Annette; Schulze, Andreas; Longo, Nicola; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Vockley, Jerry; Kronn, David; Zori, Robert; Cederbaum, Stephen; Merritt, J Lawrence; Wong, Derek; Coakley, Dion F; Scharschmidt, Bruce F; Dickinson, Klara; Marino, Miguel; Lee, Brendan H; Mokhtarani, Masoud
Molecular Genetics and Metabolism. 116(1-2)
Academic Journal
Lee, Brendan; Diaz, George A; Rhead, William; Lichter-Konecki, Uta; Feigenbaum, Annette; Berry, Susan A; Le Mons, Cindy; Bartley, James A; Longo, Nicola; Nagamani, Sandesh C; Berquist, William; Gallagher, Renata; Bartholomew, Dennis; Harding, Cary O; Korson, Mark S; McCandless, Shawn E; Smith, Wendy; Cederbaum, Stephen; Wong, Derek; Merritt, J Lawrence; Schulze, Andreas; Vockley, Gerard; Kronn, David; Zori, Roberto; Summar, Marshall; Milikien, Douglas A; Marino, Miguel; Coakley, Dion F; Mokhtarani, Masoud; Scharschmidt, Bruce F
Genetics in Medicine. 17(7)
Academic Journal
Chong, Jessica X; Burrage, Lindsay C; Beck, Anita E; Marvin, Colby T; McMillin, Margaret J; Shively, Kathryn M; Harrell, Tanya M; Buckingham, Kati J; Bacino, Carlos A; Jain, Mahim; Alanay, Yasemin; Berry, Susan A; Carey, John C; Gibbs, Richard A; Lee, Brendan H; Krakow, Deborah; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J; Abecasis, Gonçalo R; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L; Chen, Christina; Chin, Jennifer; Cooper, Gregory M; Davis, Colleen P; Frazar, Christopher; He, Zongxiao; Jain, Preti; Jarvik, Gail P; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A; Krumm, Niklas; Leal, Suzanne M; Luksic, Daniel; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Siegel, Deborah L; Smith, Joshua D; Staples, Jeffrey C; Tabor, Holly K; Tackett, Monica; Underwood, Jason G; Wegener, Marc; Wang, Gao; Wheeler, Marsha M; Yi, Qian
American Journal of Human Genetics. 96(5)
Academic Journal
Diaz, George A; Krivitzky, Lauren S; Mokhtarani, Masoud; Rhead, William; Bartley, James; Feigenbaum, Annette; Longo, Nicola; Berquist, William; Berry, Susan A; Gallagher, Renata; Lichter‐Konecki, Uta; Bartholomew, Dennis; Harding, Cary O; Cederbaum, Stephen; McCandless, Shawn E; Smith, Wendy; Vockley, Gerald; A., Stephen; Korson, Mark S; Kronn, David; Zori, Roberto; Merritt, J Lawrence; Nagamani, Sandesh CS; Mauney, Joseph; LeMons, Cynthia; Dickinson, Klara; Moors, Tristen L; Coakley, Dion F; Scharschmidt, Bruce F; Lee, Brendan
Hepatology. 57(6)
Academic Journal
Endocrinology. Oct 01, 2000 141(10):3527-3533
Periodical
Schimmenti, Lisa A; Warman, Berta; Schleiss, Mark R; Daly, Kathleen A; Ross, Julie A; McCann, Mark; Jurek, Anne M; Berry, Susan A
Genetics in Medicine; December 2011, Vol. 13 Issue: 12 p1006-1010, 5p
Periodical
Hinton, Cynthia F; Feuchtbaum, Lisa; Kus, Christopher A; Kemper, Alex R; Berry, Susan A; Levy-Fisch, Jill; Luedtke, Julie; Kaye, Celia; Boyle, Coleen A
Genetics in Medicine; October 2011, Vol. 13 Issue: 10 p861-865, 5p
Periodical
Genetics in Medicine; December 2010, Vol. 12 Issue: 1, Number 1 Supplement 12 pS215-S219, 5p
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[AR] Berry, Susan A
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