Items where authors include "Toomes, C."

Article

Ferla, R., Pugni, E., Lupo, M. et al. (21 more authors) (2025) Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models. Science Advances, 11 (13). ISSN 2375-2548

Best, S., Yu, J., Lord, J. orcid.org/0000-0002-0539-9343 et al. (16 more authors) (2022) Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach. Journal of Medical Genetics, 59. pp. 1151-1164. ISSN 0022-2593

Ponchel, F., Toomes, C., Bransfield, K. et al. (11 more authors) (2003) Real-time PCR based on SYBR-Green I fluorescence: An alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnology, 3 (18). ISSN 1472-6750

Conference or Workshop Item

Best, S., Lord, J., Roche, M. et al. (10 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100 000 genomes project. In: 2021 European Association for Vision and Eye Research Festival, 27 Sep - 02 Oct 2021, Online.