Clarke, Joe T.R.

Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., et al. (2002) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study

Tran, C., Patel, J., Stacy, H., Mamak, E. G., Faghfoury, H., Raiman, J., Clarke, J. T. R., Blaser, S., & Mercimek-Mahmutoglu, S. (2017) · European Journal of Paediatric Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

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