Items where authors include "Douzgou, S."
Article
Balasubramanian, M. orcid.org/0000-0003-1488-3695, Dingemans, A.J.M., Albaba, S. et al. (36 more authors) (2021) Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics, 29 (4). pp. 625-636. ISSN 1018-4813
Calpena, E., Cuellar, A., Bala, K. et al. (20 more authors) (2020) SMAD6 variants in craniosynostosis : genotype and phenotype evaluation. Genetics in Medicine, 22 (9). pp. 1498-1506. ISSN 1098-3600
McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836