학술논문
'학술논문'
에서 검색결과 42건 | 목록
1~10
Academic Journal
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, July 2024, 47(4):690-702)
Academic Journal
Quelhas, D.; Kingma, S.D.K.; Rubio-Gozalbo, E.; Jonckheere, A.I.; Smeets-Peels, C.S.; Gomes, D.C.; Duro, J.; Oliveira, A.; Matthijs, G.; Steinbusch, L.K.M.; Jaeken, J.; Rivera, I.
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, March 2024, 38)
Academic Journal
Garrett, O.S.; Druss, J.J.; Fridovich-Keil, J.L.; Vos, E.N.; Rubio-Gozalbo, E.; Fu, Y.-T.D.; Lucia, S.; Berry, G.T.; Greenstein, P.E.; Bauer, A.; Sykut-Cegielska, J.; Stepien, K.M.; Arbuckle, C.; Grafakou, O.; Meyer, U.; Vanhoutvin, N.; Pané, A.; Bosch, A.M.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, 2024)
Academic Journal
Häberle, J.; Rüfenacht, V.; Moore, M.B.; Haskins, N.; Tuchman, M.; AhMew, N.; Caldovic, L.; Rokicki, D.; Rubio-Gozalbo, E.; Longo, N.; Yandell, M.; Andrews, A.
In: Human Mutation . (Human Mutation, December 2021, 42(12):1624-1636)
Book
Treacy, E.P.; Nerney, D.; Shakerdi, L.; Pastores, G.M.; Vencken, S.; Bosch, A.M.; Gautschi, M.; Rubio-Gozalbo, E.; Dawson, C.; Colhoun, H.O.; O'Flaherty, R.; Saldova, R.
(JIMD Reports, 2021, 61(1):76-88)
Academic Journal
In: Neurology . (Neurology, 3 August 2021, 97(5):E540)
Academic Journal
In: Neurology . (Neurology, 18 April 2023, 100(16):S14)
Academic Journal
In: PLoS ONE . (PLoS ONE, December 2016, 11(12))
Academic Journal
Morava, E.; Witters, P.; Jaeken, J.; Tiemes, V.; Huijben, K.; Lefeber, D.J.; Wevers, R.A.; Thiel, C.; Seta, N.; Ayadi, A.; de Lonlay, P.; de Klerk, H.; Mulder, M.; Rubio-Gozalbo, E.; Visser, G.; van Hasselt, P.; Horovitz, D.D.G.; de Souza, C.F.M.; Schwartz, I.V.D.; Green, A.; Al-Owain, M.; Uziel, G.; Sigaudy, S.; Chabrol, B.; van Spronsen, F.-J.; Steinert, M.; Komini, E.; Wurm, D.; Bevot, A.; Dercksen, M.; Matthijs, G.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, 1 September 2016, 39(5):713-723)
Academic Journal
Chien, Y.-H.; Hwu, W.-L.; Abdenur, J.E.; Baronio, F.; Bannick, A.A.; Corrales, F.; Couce, M.; Donner, M.G.; Ficicioglu, C.; Freehauf, C.; Thomas, J.; Frithiof, D.; Gotway, G.; Hirabayashi, K.; Hofstede, F.; Hoganson, G.; James, P.; Levy, H.; Kim, S.; Korman, S.H.; Lachmann, R.; Lindner, M.; Lykopoulou, L.; Mayatepek, E.; Muntau, A.; Okano, Y.; Raymond, K.; Rubio-Gozalbo, E.; Scholl-Bürgi, S.; Schulze, A.; Singh, R.; Stabler, S.; Stuy, M.; Wagner, C.; Wilson, W.G.; Wortmann, S.; Yamamoto, S.; Pao, M.; Blom, H.J.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, 20 August 2015, 10(1))
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제한된 항목
[AR] Rubio-Gozalbo, E.
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