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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)
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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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De Greef, E, Christodoulou, J, Alexander, IE, Shun, A, O'Loughlin, EV, Thorburn, DR, Jermyn, V, Stormon, MO.
Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patients..
JIMD Rep
4:
5 -11
2012
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