학술논문
'학술논문'
에서 검색결과 343건 | 목록
1~10
Academic Journal
Sousa, M.; Maamari, B.; Bremova, T.; Nuoffer, J.M.; Wiest, R.; Amstutz, D.; Krack, P.; Bartholdi, D.; Tinkhauser, G.
In Parkinsonism and Related Disorders March 2024 120
Academic Journal
Srinivasan, RC; Zabulica, M; Hammarstedt, C; Wu, TT; Gramignoli, R; Kannisto, K; Ellis, E; Karadagi, A; Fingerhut, R; Allegri, G; Rufenacht, V; Thony, B; Haberle, J; Nuoffer, JM; Strom, SC
Journal of inherited metabolic disease. 42(6):1054-1063
Academic Journal
Skin Health and Disease, Vol 1, Iss 2, Pp n/a-n/a (2021)
Electronic Resource
Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne
Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer , Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet Journal of Rare Diseases, 9:176.
Electronic Resource
Laemmle, Alexander; https://orcid.org/0000-0001-9191-1886; Poms, Martin; https://orcid.org/0000-0002-4426-314X; Hsu, Bernadette; https://orcid.org/0000-0002-7826-0780; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; https://orcid.org/0000-0002-2421-4535; Sadowski, Martin C; https://orcid.org/0000-0002-5267-1442; Nuoffer, Jean-Marc; https://orcid.org/0000-0003-3650-6153; Häberle, Johannes; https://orcid.org/0000-0003-0635-091X; Willenbring, Holger; https://orcid.org/0000-0002-7397-2957
Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C ; Nuoffer , Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC‐derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3):646-659.
Academic Journal
Yogarajah, J.; Gouveia, C.; Iype, J.; Häfliger, S.; Schaller, A.; Nuoffer, J.M.; Fux, M.; Gautschi, M.
Skin Health and Disease. June 2021, Vol. 1 Issue 2
Academic Journal
Tamara Hilmenyuk; Carla A. Ruckstuhl; Michael Hayoz; Christian Berchtold; Jean-Marc Nuoffer; Shyam Solanki; Hector C. Keun; Paul A. Beavis; Carsten Riether; Adrian F. Ochsenbein
OncoImmunology, Vol 7, Iss 1 (2018)
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly
Academic Journal
Jackson, C. B.; Bauer, M. F.; Schaller, A.; Kotzaeridou, U.; Ferrarini, A.; Hahn, D.; Chehade, H.; Barbey, F.; Tran, C.; Gallati, S.; Haeberli, A.; Eggimann, S.; Bonafé, L.; Nuoffer, J-M.
European Journal of Pediatrics. April 2016 175(4):517-525
Academic Journal
Electronic Resource
Srinivasan, Raghuraman C; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer, Jean‐Marc; Strom, Stephen C; https://orcid.org/0000-0002-2889-3387
Srinivasan, Raghuraman C ; Zabulica, Mihaela; Hammarstedt, Christina; Wu, Tingting; Gramignoli, Roberto; Kannisto, Kristina; Ellis, Ewa; Karadagi, Ahmad; Fingerhut, Ralph; Allegri, Gabriella; Rüfenacht, Véronique; Thöny, Beat; Häberle, Johannes; Nuoffer , Jean‐Marc; Strom, Stephen C (2019). A liver‐humanized mouse model of carbamoyl phosphate synthetase 1‐deficiency. Journal of Inherited Metabolic Disease, 42(6):1054-1063.
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[검색어] Nuoffer, C
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