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Rare Disease • 2014 • Pharmacology Research 31(7): 1644-1655. PMID: 24562808.

Quiñones-Lombraña A, Ferguson D, Hageman R, Kalabus JL, Redzematovic A, Blanco JG

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Rare Disease • 2014 • Biomarkers in Medicine 8(5): 641-652. PMID: 25123033.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M

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Rare Disease • 2014 • Journal of Medicinal Chemistry 57(23): 9776-9795. PMID: 25441013.

Hadida S, Van Goor F, Zhou J, Arumugam V, McCartney J, Hazlewood A, Decker C, Negulescu P, Grootenhuis PD

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Rare Disease • 2014 • Cell Reports 7(2): 412-423. PMID: 24726356.

Goncharova EA, Goncharov DA, Fehrenbach M, Khavin I, Ducka B, Hino O, Colby TV, Merrilees MJ, Haczku A, Albelda SM, Krymskaya VP

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Rare Disease • 2016 • Mitochondrial DNA A DNA Mapp Sequence Analysis 27(2): 896-903. PMID: 24938108.

Hefti E, Quiñones-Lombraña A, Redzematovic A, Hui J, Blanco JG

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Rare Disease • 2015 • The Journal of Clinical Investigation 125(9): 3449-3460. PMID: 26241054.

Wooton-Kee CR, Jain AK, Wagner M, Grusak MA, Finegold MJ, Lutsenko S, Moore DD

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