학술논문
'학술논문'
에서 검색결과 49건 | 목록
1~10
Academic Journal
Boutaud, L.; Tessier, A.; Bessières, B.; Salhi, H.; Achaiaa, A.; Razavi, F.; Loeuilllet, L.; Attié-Bitach, T.; Ruzzenente, B.; Metodiev, M.D.; Rötig, A.; Anselem, O.; Pannier, E.; Grotto, S.; Jauny, C.; Talhi, N.; Amram, D.; Willems, M.; Wells, C.; Blanchet, P.; Musizzano, Y.; Nitschke, P.; Bole-Feysot, C.
In: Brain . (Brain, 1 May 2023, 146(5):1804-1811)
Academic Journal
Cafournet, C.; Zanin, S.; Steffann, J.; Munnich, A.; Bonnefont, J.-P.; Rötig, A.; Ruzzenente, B.; Metodiev, M.D.; Guimier, A.; Hully, M.; Assouline, Z.; Barcia, G.; de Lonlay, P.
In: Life . (Life, February 2023, 13(2))
Academic Journal
Pulman, J.; Ruzzenente, B.; Horak, M.; Munnich, A.; Rötig, A.; Metodiev, M.D.; Barcia, G.; Boddaert, N.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, November 2021, 134(3):267-273)
Academic Journal
Loiselet, K.; Roux, C.-J.; Boddaert, N.; Ruzzenente, B.; Barcia, G.; Pennisi, A.; Munnich, A.; Rötig, A.; Desguerre, I.; Levy, R.; Dangouloff-Ros, V.; Grévent, D.; De Lonlay, P.
In: Developmental Medicine and Child Neurology . (Developmental Medicine and Child Neurology, June 2021, 63(6):705-711)
Academic Journal
Barcia, G.; Assouline, Z.; Pennisi, A.; Ormieres, C.; Munnich, A.; Bonnefont, J.-P.; Steffann, J.; Pandithan, D.; Bratkovic, D.; Ruzzenente, B.; Rötig, A.; Besmond, C.; Roux, C.-J.; Boddaert, N.; Desguerre, I.; Thorburn, D.R.
In: Haematologica . (Haematologica, April 2021, 106(4):1220-1225)
Academic Journal
Barcia, G.; Rio, M.; Assouline, Z.; Steffann, J.; Munnich, A.; Bonnefont, J.-P.; Rötig, A.; Zangarelli, C.; Metodiev, M.D.; Ruzzenente, B.; Roux, C.-J.; Boddaert, N.; de Lonlay, P.; Desguerre, I.
In: European Journal of Human Genetics . (European Journal of Human Genetics, March 2021, 29(3):533-538)
Academic Journal
Barcia, G.; Rio, M.; Assouline, Z.; Zangarelli, C.; Schiff, M.; Munnich, A.; Bonnefont, J.-P.; Steffann, J.; Rötig, A.; Metodiev, M.D.; Ruzzenente, B.; Gueguen, N.; Dumas, V.D.; Barth, M.; Procaccio, V.; Marcorelles, P.; Slama, A.; Hully, M.; Desguerre, I.; de Lonlay, P.; Boddaert, N.
In: Human Mutation . (Human Mutation, 1 February 2020, 41(2):397-402)
Academic Journal
Ramos, E.S.; Motori, E.; Kauppila, J.H.K.; Busch, J.D.; Larsson, N.-G.; Brüser, C.; Jakobs, S.; Kühl, I.; Yeroslaviz, A.; Ruzzenente, B.; Hultenby, K.; Habermann, B.H.; Mourier, A.
In: PLoS Genetics . (PLoS Genetics, June 2019, 15(6))
Academic Journal
Pulman, J.; Ruzzenente, B.; Bianchi, L.; Munnich, A.; Rötig, A.; Metodiev, M.D.; Rio, M.; Boddaert, N.
In: Human molecular genetics . (Human molecular genetics, 1 May 2019, 28(9):1445-1462)
Academic Journal
Ruzzenente, B.; Munnich, A.; Rötig, A.; Metodiev, M.D.; Assouline, Z.; Barcia, G.; Rio, M.; Boddaert, N.
In: Human Mutation . (Human Mutation, December 2018, 39(12):2047-2059)
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제한된 항목
[AR] Ruzzenente, B.
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