Aysylu Murtazina

Genetic and Clinical Spectrum of GNE Myopathy in Russia

I. Kanivets, S. Nikitin, E. Dadali, 2022, Genes.

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

A. Marakhonov, E. Dadali, O. Shchagina, 2022, International journal of molecular sciences.

Congenital myopathy as a new phenotype caused by two undescribed variants in ASCC1 gene

A. Kurenkov, M. Skoblov, D. Guseva, 2022, American journal of medical genetics. Part A.

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.

The First Russian Patient with Native American Myopathy

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

Clinical and genetic characteristics of rare variants of acromelic skeletal dysplasias caused by mutations in the FBN1 gene

E. Dadali, V. Kenis, A. Murtazina, 2021, Pediatric Traumatology, Orthopaedics and Reconstructive Surgery.