Items where authors include "Watson, C.M."

Article

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel ameloblastin variants, contrasting amelogenesis imperfecta phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2023) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics. ISSN 0022-2593

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2023) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics. ISSN 0022-2593

Durkie, M., Watson, C.M. orcid.org/0000-0003-2371-1844, Winship, P. et al. (10 more authors) (2023) The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease. Human Mutation, 2023. 5597005. ISSN 1059-7794

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

Watson, C.M. orcid.org/0000-0003-2371-1844, Nadat, F., Ahmed, S. et al. (4 more authors) (2022) Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease. Genes and Immunity, 23. pp. 66-72. ISSN 1466-4879