학술논문
'학술논문'
에서 검색결과 99건 | 목록
1~10
Accurate molecular diagnosis of gaucher disease using clinical exome sequencing as a first-tier test
Academic Journal
Zampieri, S.; Cattarossi, S.; Pavan, E.; Peruzzo, P.; Scarpa, M.; Ciana, G.; Dardis, A.; Barbato, A.; Fiumara, A.
In: International Journal of Molecular Sciences . (International Journal of Molecular Sciences, 1 June 2021, 22(11))
Academic Journal
Ciana, G.; Dardis, A.; Pavan, E.; Da Riol, R.M.; Zanatta, M.; Bembi, B.; Biasizzo, J.; Ferino, D.; Boni, A.; Antonini, L.; Crichiutti, G.
In: Molecular Genetics and Metabolism Reports . (Molecular Genetics and Metabolism Reports, December 2020, 25)
Academic Journal
Valent, F.; Deroma, L.; Moro, A.; Ciana, G.; Da Riol, M.R.; Macor, D.; Bembi, B.; Martina, P.; De Martin, F.; Michelesio, E.
In: Value in Health . (Value in Health, September 2019, 22(9):1003-1011)
Academic Journal
Devigili, G.; Lettieri, C.; Rinaldo, S.; Eleopra, R.; De Filippo, M.; Ciana, G.; Dardis, A.; Macor, D.; Moro, A.; Bembi, B.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, 31 August 2017, 12(1))
Academic Journal
Barone, R.; Fiumara, A.; Carrozzi, M.; Parini, R.; Battini, R.; Martinelli, D.; Elia, M.; Spada, M.; Lilliu, F.; Ciana, G.; Burlina, A.; Leuzzi, V.; Leoni, M.; Di Rocco, M.; Sturiale, L.; Garozzo, D.; Matthijs, G.; Jaeken, J.
In: Journal of Neurology . (Journal of Neurology, January 2015, 262(1):154-164)
Academic Journal
Sechi, A.; Deroma, L.; Dardis, A.; Ciana, G.; Bertin, N.; Bembi, B.; Concolino, D.; Linari, S.; Perria, C.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, 1 November 2014, 113(3):213-218)
Book
Reunert, J.; Lotz-Havla, A. S.; Polo, G.; Kannenberg, F.; Fobker, M.; Griese, M.; Mengel, E.; Muntau, A. C.; Schnabel, P.; Sommerburg, O.; Borggraefe, I.; Dardis, A.; Burlina, A. P.; Mall, M. A.; Ciana, G.; Bembi, B.; Burlina, A. B.; Marquardt, T.
JIMD Reports Volume 23; 2015, p17-26, 10p
Academic Journal
In: European Journal of Pediatrics . (European Journal of Pediatrics, June 2014, 173(6):805-813)
Academic Journal
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2012, 35(6):1101-1106)
Academic Journal
Bembi, B.; Ciana, G.; Dardis, A.; Pisa, F.E.; Confalonieri, M.; Fiumara, A.; Parini, R.; Rigoldi, M.; Moglia, A.; Costa, A.; Ravaglia, S.; Carlucci, A.; Danesino, C.; Pittis, M.G.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, December 2010, 33(6):727-735)
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[AR] Ciana, G.
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