Items where authors include "Savarirayan, R."

Article

Hoover-Fong, J., Cheung, M.S., Fano, V. et al. (14 more authors) (2021) Lifetime impact of achondroplasia: current evidence and perspectives on the natural history. Bone, 146. 115872. ISSN 8756-3282

Savarirayan, R., Irving, M., Maixner, W. et al. (10 more authors) (2021) Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery. Science Progress, 104 (1). ISSN 0036-8504

Burrage, L.C., Reynolds, J.J., Baratang, N.V. et al. (57 more authors) (2019) Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. American Journal of Human Genetics, 104 (3). pp. 422-438. ISSN 0002-9297

Jackson, G.C., Mittaz-Crettol, L., Taylor, J.A. et al. (17 more authors) (2012) Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33 (1). 144 - 157. ISSN 1059-7794