T. Nagornova

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

E. Dadali, A. Polyakov, O. Shchagina, 2022, Genes.

A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance

M. Ampleeva, E. Dadali, V. Kenis, 2022, International Journal of Translational Medicine.

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

E. Dadali, A. Borovikov, T. Markova, 2021, Molecular genetics & genomic medicine.

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene

E. Dadali, V. Kenis, D. Guseva, 2022, Molecular genetics & genomic medicine.