학술논문
'학술논문'
에서 검색결과 292건 | 목록
1~10
Academic Journal
Guffon, N.; Konstantopoulou, V.; Hennermann, J.B.; Muschol, N.; Bruno, I.; Tummolo, A.; Ceravolo, F.; Ballabeni, A.; Zardi, G.; Lund, A.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, July 2023, 46(4):705-719)
Academic Journal
Ouattara, A.; Resseguier, N.; Berbis, J.; Auquier, P.; Cano, A.; Fabre, A.; Hoebeke, C.; Chabrol, B.; De Lonlay, P.; Arnoux, J.-B.; Brassier, A.; Schiff, M.; Pichard, S.; Guffon, N.; Fouilhoux, A.; Broué, P.; Touati, G.; Dobbelaere, D.; Mention, K.; Labarthe, F.; Tardieu, M.; De Parscau, L.; Feillet, F.; Bonnemains, C.; Kuster, A.; Labrune, P.; Barth, M.; Damaj, L.; Lamireau, D.
In: Journal of Pediatrics . (Journal of Pediatrics, March 2023, 254:39-47.e4)
Academic Journal
Hopkin, R.J.; Cabrera, G.H.; Jefferies, J.L.; Yang, M.; Ponce, E.; Brand, E.; Feldt-Rasmussen, U.; Germain, D.P.; Guffon, N.; Jovanovic, A.; Kantola, I.; Karaa, A.; Martins, A.M.; Tøndel, C.; Wilcox, W.R.; Yoo, H.-W.; Burlina, A.P.; Mauer, M.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, February 2023, 138(2))
Academic Journal
In: Cardiology in the Young . (Cardiology in the Young, 2023)
Academic Journal
In Journal Francais d'Ophtalmologie 2010 33(9):617-622
Academic Journal
Guffon, N.; Genevaz, D.; Lacombe, D.; Le Peillet Feuillet, E.; Bausson, P.; Noel, E.; Maillot, F.; Belmatoug, N.; Jaussaud, R.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2022, 17(1))
Academic Journal
Diaz, G.A.; Giugliani, R.; Guffon, N.; Jones, S.A.; Mengel, E.; Scarpa, M.; Witters, P.; Yarramaneni, A.; Li, J.; Ortemann-Renon, C.; Kumar, M.; Armstrong, N.M.; Kim, Y.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2022, 17(1))
Academic Journal
Polgreen, L.E.; Bay, L.; Clarke, L.A.; Guffon, N.; Jones, S.A.; Muenzer, J.; Flores, A.L.; Wilson, K.; Viskochil, D.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, October 2022, 188(10):2941-2951)
Academic Journal
Mitchell, J.J.; Burton, B.K.; Bober, M.B.; Campeau, P.M.; Cohen, S.; Dosenovic, S.; Hinds, D.; Lail, A.; Schwartz-Sagi, L.; Ellaway, C.; Bhattacharya, K.; Guffon, N.; Lin, S.-P.; Magner, M.; Raiman, J.; Stepien, K.M.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, 1 September 2022, 137(1-2):164-172)
Academic Journal
Muenzer, J.; Burton, B.K.; Harmatz, P.; Gutiérrez-Solana, L.G.; Ruiz-Garcia, M.; Jones, S.A.; Guffon, N.; Inbar-Feigenberg, M.; Bratkovic, D.; Hale, M.; Yee, K.S.; Wu, Y.; Whiteman, D.A.H.; Alexanderian, D.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, 1 September 2022, 137(1-2):127-139)
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[AR] Guffon, N.
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