Obie, Cassandra

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., et al. (1999) · Nature Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 285

Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

Schrader, M., Reuber, B. E., Morrell, J. C., Jimenez-Sanchez, G., Obie, C., Stroh, T. A., Valle, D., Schroer, T. A., & Gould, S. J. (1998) · Journal of Biological Chemistry

Peroxisome Proliferator-Activated ReceptorsAutophagy in Disease and Therapy

Cited by 266

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

Cited by 134