학술논문
'학술논문'
에서 검색결과 61건 | 목록
1~10
Academic Journal
Sen, K.; Gropman, A.L.; Izem, R.; Jiang, J.; McCarter, R.J.; Long, Y.; Konczal, L.L.; Bedoyan, J.K.; Mew, N.A.; Baumgartner, M.R.; Berry, G.; Berry, S.A.; Burgard, P.; Burrage, L.C.; Cederbaum, S.; Coughlin, C.; Diaz, G.A.; Enns, G.; Gallagher, R.C.; Harding, C.O.; Hoffmann, G.F.; Le Mons, C.; McCandless, S.E.; Merritt, J.L.; Nagamani, S.C.S.; Schulze, A.; Seminara, J.; Stricker, T.; Tuchman, M.; Waisbren, S.; Weisfeld-Adams, J.D.; Wong, D.; Yudkoff, M.
In: Molecular Genetics and Genomic Medicine . (Molecular Genetics and Genomic Medicine, April 2024, 12(4))
Academic Journal
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi-Vici, Carlo; the EHOD consortium; Alcalde Martin, C.; Baethmann, M.; Ballhausen, D.; Blasco-Alonso, J.; Boy, N.; Bueno, M.; Burgos Peláez, R.; Cerone, R.; Chabrol, B.; Chapman, K. A.; Couce, M. L.; Crushell, E.; Dalmau Serra, J.; Diogo, L.; Ficicioglu, C.; García Jimenez, M. C.; García Silva, M. T.; Gaspar, A. M.; Gautschi, M.; González-Lamuño, D.; Gouveia, S.; Grünewald, S.; Hendriksz, C.; Janssen, M. C. H.; Jesina, P.; Koch, J.; Konstantopoulou, V.; Lavigne, C.; Lund, A. M.; Martins, E. G.; Meavilla Olivas, S.; Mention, K.; Mochel, F.; Mundy, H.; Murphy, E.; Paquay, S.; Pedrón-Giner, C.; Ruiz Gómez, M. A.; Santra, S.; Schiff, M.; Schwartz, I. V.; Scholl-Bürgi, S.; Servais, A.; Skouma, A.; Tran, C.; Vives Piñera, I.; Walter, J.; Weisfeld-Adams, J.
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. :1-19
Academic Journal
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J M; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M C; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H; Ibrahim, Jennifer; Jacob, Claire M; Kant, Sarina G; Kim, Chong Ae; Kirk, Edwin P; Knoers, Nine V A M; Lacombe, Didier; Lee, Chung; Lo, Ivan F M; Lucas, Luiza S; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L; Simon, Marleen E H; Slavotinek, Anne; Temple, I Karen; van der Burgt, Ineke; de Vries, Bert B A; Weisfeld-Adams, James D; Whiteford, Margo L; Wierczorek, Dagmar; Wit, Jan M; Yee, Connie Fung On; Beaulieu, Chandree L; cpgdsconsortium@cheo.on.ca; White, Sue M; Bulman, Dennis E; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M
Orphanet Journal of Rare Diseases. 8(1)
Academic Journal
Butler, Kameryn M.; da Silva, Cristina; Shafir, Yuval; Weisfeld-Adams, James D.; Alexander, John J.; Hegde, Madhuri; Escayg, Andrew
In Epilepsy Research January 2017 129:17-25
Academic Journal
Burrage, Lindsay C.; Sun, Qin; Elsea, Sarah H.; Jiang, Ming-Ming; Nagamani, Sandesh C.S.; Frankel, Arthur E.; Stone, Everett; Alters, Susan E.; Johnson, Dale E.; Rowlinson, Scott W.; Georgiou, George; Lee, Brendan H.; Batshaw, Mark L.; Tuchman, Mendel; Summar, Marshall L.; Mew, Nicholas Ah; Baumgartner, Matthias R.; Berry, Susan A.; Cederbaum, Stephen; Coughlin, Curtis, III; Diaz, George A.; Feigenbaum, Annette; Gallagher, Renata C.; Harding, Cary O.; Hoffmann, Georg; Kerr, Douglas S.; Lee, Brendan; Lichter-Konecki, Uta; McCandless, Shawn E.; Lawrence Merritt, J., II; Nagamani, Sandesh CS; Schulze, Andreas; Seashore, Margretta R.; Stricker, Tamar; Waisbren, Susan; Weisfeld-Adams, James; Wong, Derek; Yudkoff, Mark
Human Molecular Genetics. Nov 15, 2015 24(22):6417-6427
Academic Journal
Capitena, Cara E.; Wagoner, Holly J.; Ruzas, Christopher M.; Bennett, Tellen D.; Baker, II, Peter R.; Jung, Jennifer L.; Weisfeld-Adams, James D.
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2016 39(6):889-890
Academic Journal
Mak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T.; Univ Washington Ctr
Academic Journal
Posset, Roland; Gropman, Andrea L.; Nagamani, Sandesh C. S.; Burrage, Lindsay C.; Bedoyan, Jirair K.; Wong, Derek; Berry, Gerard T.; Baumgartner, Matthias R.; Yudkoff, Marc; Zielonka, Matthias; Hoffmann, Georg F.; Burgard, Peter; Schulze, Andreas; McCandless, Shawn E.; Garcia-Cazorla, Angeles; Seminara, Jennifer; Garbade, Sven F.; Koelker, Stefan; Bloxam, S.; Brody, L.; Caspi, L.; Elsbecker, S.; Fierro, L.; Gunasekaran, V.; Hart, J.; Lynn, A.; Mullins, M.; Mutze, U.; Papaleo, C.; Parks, K.; Payan, I.; Quan, T.; Simpson, K.; Singer, R.; Wallis, K.; Alber, F. D.; Babikian, T.; Bender, H.; Boys, C.; Breiger, D.; Buerger, C.; Kowoll, M.; Caudle, S. E.; Nguyen-Driver, M.; Goodlett, B.; Kerr, E.; Krueger, C.; Mamak, E.; Sanz, J. H.; Tangen, R.; Izem, R.; Cederbaum, S.; Feigenbaum, A.; Kerr, D. S.; Lichter-Konecki, U.; Seashore, M. R.; Diaz, G. A.; Mew, N. Ah; McCarter, R.; Tuchman, M.; Weisfeld-Adams, J.; Urea Cycle Disorders Consortium; European Registry Network
Academic Journal
Buerger, Corinna; Garbade, Sven F.; Alber, Fabienne Dietrich; Waisbren, Susan E.; McCarter, Robert; Koelker, Stefan; Burgard, Peter; Mew, Nicholas Ah; Batshaw, Mark L.; Baumgartner, Matthias R.; Berry, Susan A.; Coughlin, Curtis; Cederbaum, Stephen; Diaz, George A.; Feigenbaum, Annette; Gallagher, Renata C.; Harding, Cary O.; Hoffmann, Georg; Kerr, Douglas S.; Lee, Brendan; Le Mons, Cynthia; Lichter-Konecki, Uta; McCandless, Shawn E.; Merritt, J. Lawrence, II; Naga-Mani, Sandesh C. S.; Schulze, Andreas; Seashore, Margretta R.; Stricker, Tamar; Summar, Marshall L.; Tuchman, Mendel; Waisbren, Susan; Weisfeld-Adams, James; Wong, Derek; Yudkoff, Marc; Urea Cycle Disorders Consortium
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 Leao; Vara, Roshni; Mew, Nicholas Ah.; Batshaw, Mark L.; Baumgartner, Matthias R.; McCandless, Shawn; Seminara, Jennifer; Summar, Marshall; Hoffmann, Georg F.; Koelker, Stefan; Burgard, Peter; Bloxam, Sondra; Brody, Linnea; Caspi, Liora; Elsbecker, Sara; Fierro, Luca; Lynn, Audrey; Mullins, Mary; Mutze, Ulrike; Papaleo, Cassandra; Payan, Irma; Simpson, Kara; Singer, Rebecca; Wallis, Kimberly; Alber, Fabienne Dietrich; Babikian, Talin; Bender, Heidi; Boys, Christopher; Breiger, David; Buerger, Corinna; Caudle, Susan E.; Nguyen-Driver, Mina; Kerr, Elizabeth; Mamak, Eva; Sanz, Jacqueline H.; Tangen, Rachel; Wilkening, Greta; Cederbaum, Stephen; Feigenbaum, Annette; Kerr, Douglas S.; Lichter-Konecki, Uta; Seashore, Margretta R.; Berry, Susan A.; Burrage, Lindsay; Coughlin, Curtis; Diaz, George A.; Gallagher, Renata C.; Gropman, Andrea; Harding, Cary O.; Lee, Brendan; Le Mons, Cynthia; Merritt, J. Lawrence, II; Nagamani, Sandesh C. S.; Schulze, Andreas; Stricker, Tamar; Tuchman, Mendel; Waisbren, Susan; Weisfeld-Adams, James; Wong, Derek; Yudkoff, Marc; Arnoux, Jean-Baptiste; Baric, Ivo; Bosch, Annet M.; Chabrol, Brigitte; Chakrapani, Anupam; Cortes-Saladefont, Elisenda; Couce, Maria L.; Eyskens, Francois; de Laet, Corine; de Meirleir, Linda; Freisinger, Peter; Gleich, Florian; Grunewald, Stephanie; Haberle, Johannes; Hwu, Wuh-Liang; Jalan, Anil; Karall, Daniela; Lindner, Martin; Lund, Allan M.; Martinelli, Diego; Murphy, Elaine; Muehlhausen, Chris; Olivieri, Giorgia; Ottolenghi, Chris; Rodrigues, Esmeralda; Rubert, Laura; Sarajlija, Adrijan; Schiff, Manuel; Sokal, Etienne; Sykut-Cegielska, Jolanta; Walter, John H.; Williams, Monique; Zeman, Jiri; UCDC; E-IMD Consortium
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[Author] Weisfeld-Adams J
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