Pyeritz, Reed E.

International nosology of heritable disorders of connective tissue, Berlin, 1986

Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics

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The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

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Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

Schwarze, U., Hata, R.-I., McKusick, V. A., Shinkai, H., Hoyme, H. E., Pyeritz, R. E., & Byers, P. H. (2004) · The American Journal of Human Genetics

Connective tissue disorders researchRNA Research and Splicing

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Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias

Cupo, L. N., Pyeritz, R. E., Olson, J. L., McPhee, S. J., Hutchins, G. M., & McKusick, V. A. (1981) · The American Journal of Medicine

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Distress and Burnout among Genetic Service Providers

Bernhardt, B. A., Rushton, C. H., Carrese, J., Pyeritz, R. E., Kolodner, K., & Geller, G. (2009) · Genetics in Medicine

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