T. Adyan

Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy

E. Kondratyeva, Anna Efremovа, Y. Melyanovskaya et al. · International Journal of Molecular Sciences · 2022 · 23 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Hereditary transthyretin amyloidosis

T. Adyan, A. V. Polyakov · Neuromuscular Diseases · 2020 · 17 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

N. Kashirskaya, D. Kh. Saydaeva, A. V. Polyakov et al. · BMC Medical Genetics · 2019 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant

E. Kondratyeva, Anna Efremovа, Y. Melyanovskaya et al. · Genes · 2021 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Phenotypic heterogeneity and diagnostic features of transthyretin amyloidosis with polyneuropathy

T. Adyan, R. V Deev · Neuromuscular Diseases · 2021 · 11 citations · Full text

Medicine, Molecular Medicine, Neurology +14