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Pfeffer, G, Thorburn, D, Turnbull, D, Majamaa, K, Chinnery, PF.
101 Systematic review of controlled trials in the treatment of mitochondrial disorders.
Journal of Neurology Neurosurgery & Psychiatry
83(3)
:
e1
2012
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Tucker, EJ, Mimaki, M, Compton, AG, McKenzie, M, Ryan, MT, Thorburn, DR.
Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation..
Hum Mutat
33(2)
:
411 -418
2012
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McKelvie, P, Infeld, B, Marotta, R, Chin, J, Thorburn, D, Collins, S.
Late-adult onset Leigh syndrome..
J Clin Neurosci
19(2)
:
195 -202
2012
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Calvo, SE, Compton, AG, Hershman, SG, Lim, SC, Lieber, DS, Tucker, EJ, Laskowski, A, Garone, C, Liu, S, Jaffe, DB, et al.
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing..
Sci Transl Med
4(118)
:
118ra10
2012
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Frazier, AE, Thorburn, DR.
Biochemical analyses of the electron transport chain complexes by spectrophotometry..
837:
49 -62
2012
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