-
de Brouwer, APM, Christodoulou, J.
Phosphoribosylpyrophosphate Synthetase Superactivity.
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view publication
-
Kaur, S, Christodoulou, J.
MECP2 Disorders.
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-
Lake, NJ, Liu, W, Battle, SL, Laricchia, KM, Tiao, G, Puiu, D, Compton, AG, Cowie, S, Christodoulou, J, Thorburn, DR, et al.
Quantifying constraint in the human mitochondrial genome.
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-
AlMail, A, Jamjoom, A, Pan, A, Feng, MY, Chau, V, D’Gama, A, Howell, K, Liang, NSY, McTague, A, Poduri, A, et al.
Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelines.
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-
Rius, R, Compton, AG, Baker, NL, Balasubramaniam, S, Best, S, Bhattacharya, K, Boggs, K, Boughtwood, T, Braithwaite, J, Bratkovic, D, et al.
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.
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view publication