Items where authors include "Stephens, D.J."

Article

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hobson, E., Skae, M. et al. (2 more authors) (2019) Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis. Molecular Genetics & Genomic Medicine, 7 (12). e912.

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Padidela, R., Pollitt, R.C. orcid.org/0000-0002-8864-397X et al. (6 more authors) (2018) P4HB recurrent missense mutation causing Cole-Carpenter syndrome. Journal of Medical Genetics, 55 (3). pp. 158-165. ISSN 0022-2593