N. Maksimova

The frequency of SLCO1B1*5 polymorphism genotypes among Russian and Sakha (Yakutia) patients with hypercholesterolemia

Grigorij Nikolaevich Shuev, D. Sychev, A. V. Grachev, 2016, Pharmacogenomics and personalized medicine.

Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome

T. Moriya, T. Otomo, T. Moriwaki, 2022, International journal of molecular sciences.

Structural variability, expression profile and pharmacogenetics properties of TMPRSS2 gene as a potential target for COVID-19 therapy

E. Khusnutdinova, S. Litvinov, A. Marusin, 2020, bioRxiv.

Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy

E. Khusnutdinova, S. Litvinov, A. Marusin, 2020, Genes.

Population frequency and age of mutation G5741→A in gene NBAS which is a cause of SOPH syndrome in Sakha (Yakutia) Republic

A. Nogovicina, N. Maksimova, K. Kurtanov, 2016, Russian Journal of Genetics.

[The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)].

V. Stepanov, T. Ikeuchi, O. Onodera, 2008, Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova.

Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype

A. Sukhomyasova, A. Nogovicina, F. Vasilev, 2023, Clinical genetics.

A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines

T. Otomo, T. Moriwaki, A. Sukhomyasova, 2023, International journal of molecular sciences.

Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination

A. Morshneva, V. Baranov, I. Kogan, 2021, Genes.