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Kirby, DM, Kahler, SG, Freckmann, ML, Reddihough, D, Thorburn, DR.
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families..
Ann Neurol
48(1)
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102 -104
2000
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Dahl, HH, Thorburn, DR, White, SL.
Towards reliable prenatal diagnosis of mtDNA point mutations: studies of nt8993 mutations in oocytes, fetal tissues, children and adults..
Hum Reprod
15 Suppl 2:
246 -255
2000
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Chow, CW, Thorburn, DR.
Morphological correlates of mitochondrial dysfunction in children..
Hum Reprod
15 Suppl 2:
68 -78
2000
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Thorburn, DR.
Practical problems in detecting abnormal mitochondrial function and genomes..
Hum Reprod
15 Suppl 2:
57 -67
2000
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White, SL, Shanske, S, Biros, I, Warwick, L, Dahl, HM, Thorburn, DR, Di Mauro, S.
Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA..
Prenat Diagn
19(12)
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1165 -1168
1999
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