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English
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For å registrere i Cristin må du være vitenskapelig eller administrativt ansatt.
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2018
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Balafkan, Novin. Modelling mitochondrial disease in cardiomyocytes generated from patient induced stem cells. : University of Bergen 2018 (ISBN 978-82-308-3795-5) UiB
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Berland, Siren; Toft-Bertelsen, Trine; Aukrust, Ingvild; Byska, Jan; Vaudel, Marc; Bindoff, Laurence; MacAulay, Nanna; Houge, Gunnar. A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance. Cold Spring Harbor Molecular Case Studies 2018 ;Volum 4.(1) UiB
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Bindoff, Laurence. Future of neurologic examination in clinical practice. JAMA Neurology 2018 ;Volum 75.(3) s. 382-382 UiB HAUKELAND
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Dölle, Christian; Bindoff, Laurence; Tzoulis, Charalampos. 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Scientific Reports 2018 ;Volum 8:1272. s. 1-8 UiB HAUKELAND
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Hayhurst, Hannah; Anagnostou, Maria-Eleni; Bogle, Helen J.; Grady, John P.; Taylor, Robert W.; Bindoff, Laurence; McFarland, Robert; Turnbull, Douglass Matthew; Lax, Nichola Z.. Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study. Brain Pathology 2018 s. 1-17 UiB HAUKELAND
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Hikmat, Omar; Naess, Karin; Engvall, Martin; Klingenberg, Claus; Rasmussen, Magnhild; Tallaksen, Chantal; Brodtkorb, Eylert; Fiskerstrand, Torunn; Isohanni, Pirjo; Uusimaa, Johanna; Darin, Niklas; Rahman, Shamima; Bindoff, Laurence. Elevated cerebrospinal fluid protein in POLG-related epilepsy: Diagnostic and prognostic implications. Epilepsia 2018 ;Volum 59.(8) s. 1595-1602 UiB HAUKELAND UiT UNN OUS UiO NTNU STO
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Hikmat, Omar; Tzoulis, Charalampos; Chong, Wui K.; Chentouf, Latifa; Klingenberg, Claus; Fratter, Carl; Carr, Lucinda J.; Prabhakar, Prab; Kumaraguru, Nandhini; Gissen, Paul; Cross, J. Helen; Jacques, Thomas S.; Taanman, Jan-Willem; Bindoff, Laurence; Rahman, Shamima. Correction to: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations (Genetics in Medicine, (2017), 19, 11, (1217-1225), 10.1038/gim.2017.35). Genetics in Medicine 2018 s. 1-1 UiB HAUKELAND UiT UNN
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Jensen, Synnøve; Arntzen, Kjell Arne; Ørstavik, Kristin; Rasmussen, Magnhild; Bindoff, Laurence. Felles løft for pasienter med nevromuskulære sykdommer. Tidsskrift for Den norske legeforening 2018 ;Volum 138.(15) s. 1408-1409 UNN HAUKELAND OUS UiB
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Kristiansen, Cecilie Katrin. W748S POLG mutation induced mitochondrial changes in hiPSC-differentiated NSCs. : Klinisk institutt 1, Universitetet i Bergen 2018 UiB
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Sofou, Kalliopi; De Coo, Irenaeus F.M.; Østergaard, Elsebet; Isohanni, Pirjo; Naess, Karin; De Meirleir, Linda; Tzoulis, Charalampos; Uusimaa, Johanna; Lönnqvist, Tuula; Bindoff, Laurence; Tulinius, Már; Darin, Niklas. Phenotype-genotype correlations in leigh syndrome: New insights from a multicentre study of 96 patients. Journal of Medical Genetics 2018 ;Volum 55.(1) s. 21-27 HAUKELAND UiB
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