학술논문
'학술논문'
에서 검색결과 251건 | 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
Lichter-Konecki, U.; Bedoyan, J.K.; Sanz, J.H.; Ah Mew, N.; Gropman, A.; McCarter, R.; Seminara, J.; Baumgartner, M.R.; Stricker, T.; Berry, G.; Waisbren, S.; Berry, S.A.; Burgard, P.; Hoffmann, G.F.; Burrage, L.; Nagamani, S.C.S.; Coughlin, C.; McCandless, S.E.; Diaz, G.A.; Enns, G.; Gallagher, R.C.; Harding, C.O.; Le Mons, C.; Merritt, J.L.; Schulze, A.; Wong, D.; Yudkoff, M.
In: Pediatric Research . (Pediatric Research, December 2023, 94(6):2005-2015)
Academic Journal
Gold, J.I.; Strong, A.; Yudkoff, M.; Madhavan, S.; Zouk, H.; Green, R.C.; Park, J.; Rader, D.; Perez, E.; Drivas, T.G.; Karaa, A.; Gold, N.B.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 12 October 2023, 4(4))
Academic Journal
DiVito, D.; Burfield, J.; Wellik, A.; Peterson, J.; Flickinger, J.; Tindall, A.; Albanowski, K.; Vishnubhatt, S.; MacMullen, L.; Martin, I.; Muraresku, C.; McCormick, E.; George-Sankoh, I.; Goldstein, A.; Ganetzky, R.; Yudkoff, M.; Falk, M.J.; Zolkipli-Cunningham, Z.; R. Mascarenhas, M.; McCormack, S.; Xiao, R.
In: Neurotherapeutics . (Neurotherapeutics, October 2023, 20(6):1723-1745)
Academic Journal
In: Annals of Internal Medicine Clinical Cases . (Annals of Internal Medicine Clinical Cases, January 2023, 2(1))
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2022, 188(5):1443-1447)
Academic Journal
Lerner, S.; Adler, L.; Erez, A.; Eilam, R.; Tsoory, M.; Baruteau, J.; Ryten, M.; Ruiz, S.G.; Kreiser, T.; Gazit, E.; Brandis, A.; Mehlman, T.; Botia, J.A.; Garcia, A.C.; Dionisi-Vici, C.; Ranucci, G.; Spada, M.; Mazkereth, R.; McCarter, R.; Izem, R.; Balmat, T.J.; Richesson, R.; Nagamani, S.C.S.; Baumgartner, M.R.; Bedoyan, J.K.; Berry, G.; Berry, S.A.; Burgard, P.; Burrage, L.; Coughlin, C.; Diaz, G.A.; Enns, G.; Gallagher, R.C.; Gropman, A.; Harding, C.O.; Hoffmann, G.; Le Mons, C.; McCandless, S.E.; Merritt, J.L.; Schulze, A.; Seminara, J.; Stricker, T.; Tuchman, M.; Waisbren, S.; Weisfeld-Adams, J.D.; Wong, D.; Yudkoff, M.
In: Human Genetics . (Human Genetics, October 2021, 140(10):1471-1485)
Academic Journal
In: Clinical Liver Disease . (Clinical Liver Disease, October 2021, 18(4):198-203)
Academic Journal
Posset, R.; Garbade, S.F.; Gleich, F.; Hoffmann, G.F.; Kölker, S.; Zielonka, M.; Burgard, P.; Mütze, U.; Gropman, A.L.; Ah Mew, N.; Seminara, J.; Tuchman, M.; de Lonlay, P.; Garcia-Cazorla, A.; Nagamani, S.C.S.; Burrage, L.C.; Baumgartner, M.R.; Stricker, T.; Schulze, A.; Dobbelaere, D.; Yudkoff, M.; Berry, S.A.; McCandless, S.E.; Coughlin, C.; Weisfeld-Adams, J.D.; Enns, G.; Gallagher, R.C.; Harding, C.O.; Le Mons, C.; Merritt, J.L.; Bedoyan, J.K.; Berry, G.T.; Waisbren, S.; Diaz, G.A.; Wong, D.; Burlina, A.B.; Leão Teles, E.; Pedrón-Giner, C.; Lund, A.M.; Dionisi-Vici, C.; Williams, M.; Karall, D.; Blasco-Alonso, J.; Couce, M.L.; Sykut-Cegielska, J.; Augoustides-Savvopoulou, P.; Ruiz Gomez, A.; Barić, I.; Schiff, M.; Chien, Y.-H.; Lindner, M.; Chabrol, B.; Skouma, A.; Zeman, J.; Sokal, E.; Santer, R.; Eyskens, F.; Freisinger, P.; Peña-Quintana, L.; Roland, D.; Cortès-Saladelafont, E.; Djordjevic, M.
In: Scientific Reports . (Scientific Reports, 1 December 2020, 10(1))
Academic Journal
Zielonka, M.; Garbade, S.F.; Gleich, F.; Okun, J.G.; Hoffmann, G.F.; Kölker, S.; Posset, R.; Nagamani, S.C.S.; Gropman, A.L.; Ah Mew, N.; Burrage, L.C.; Schulze, A.; Berry, S.A.; Baumgartner, M.R.; Diaz, G.A.; Merritt, J.L.; Bedoyan, J.K.; Wong, D.; Harding, C.O.; Yudkoff, M.; Garcia-Cazorla, A.; Cortès-Saladelafont, E.; Lund, A.M.; Dionisi-Vici, C.; Burlina, A.B.; Morris, A.A.; Freisinger, P.; Walter, M.E.; Jalan, A.; Schiff, M.; Dobbelaere, D.; Bosch, A.M.; Ioannou, H.; Barić, I.
In: Human Mutation . (Human Mutation, 1 May 2020, 41(5):946-960)
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[AR] Yudkoff, M.
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