Spranger, Jürgen
Greenwood Genetic Center
3 papers on CoChatORCID 0000-0002-7034-9596
Most cited papers
- Verified
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
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 732
- Verified
Nosology and classification of genetic skeletal disorders: 2015 revision
Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 569
- Verified
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics
Bone Metabolism and DiseasesConnective tissue disorders research
Cited by 133
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