Author

T. Markova

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Oct 2026

Delineating the Phenotypic Spectrum of SLC26A2-related Skeletal Dysplasias in a Cohort of 115 Patients: Evidence for a Novel Complex Allele Modifying Disease Severity.

Daria Gorodilova, T. Markova, V. Kenis et al. · Genetics in Medicine · 0 citations

Open access Aug 2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.

A. Murtazina, Eugenii Tatarsky, I. Viakhireva et al. · Journal of Medical Genetics · 0 citations