Ravi Savarirayan
Genetic Health Services Victoria
Royal Children's Hospital
Parkville
Australia
Name/email consistency: high
- Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. Savarirayan, R., Boyle, R.J., Masel, J., Rogers, J.G., Sheffield, L.J. Am. J. Med. Genet. A (2004)
- Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. Savarirayan, R., White, S.M., Goodman, F.R., Graham, J.M., Delatycki, M.B., Lachman, R.S., Rimoin, D.L., Everman, D.B., Warman, M.L. Am. J. Med. Genet. A (2003)
- Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Savarirayan, R., Robertson, S.P., Bankier, A., Rogers, J.G. Pediatr. Pathol. Mol. Med (2003)
- New mesomelic dysplasia with absent fibulae and triangular tibiae. Savarirayan, R., Cormier-Daire, V., Curry, C.J., Nashelsky, M.B., Rappaport, V., Rimoin, D.L., Lachman, R.S. Am. J. Med. Genet. (2000)