N. Mazanova

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology

A. Fisenko, I. Zhanin, A. Pakhomov, 2022, Orphanet Journal of Rare Diseases.

Family case of aromatic L-amino acid decarboxylase deficiency

I. Kanivets, O. B. Kondakova, K. Savostyanov, 2022, Neuromuscular Diseases.

Genetic Landscape of Nephropathic Cystinosis in Russian Children

A. Fisenko, V. Maltseva, A. Polyakov, 2022, Frontiers in Genetics.