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| Issue |
Title |
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| Vol 24, No 8 (2025) |
Clinical, biochemical and molecular-genetic features of selective screening of Russian patients with Niemann-Pick disease types A, B and A/B. Results of the selective screening program |
Abstract
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A. A. Rusakova, N. N. Mazanova, G. B. Movsisyan, D. S. Demianov, M. N. Kalasov, I. S. Zhanin, V. A. Bezrukikh, L. V. Goncharova, G. L. Tyapaikina, A. V. Sukhozhenko, A. A. Pushkov, A. Y. Alekseeva, R. V. Ponomarev, E. A. Lukina, A. P. Fisenko, A. Yu. Asanov, K. V. Savostyanov |
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| Vol 24, No 8 (2025) |
Sialuria: new observation of a rare inborn error of metabolism |
Abstract
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A. A. Gusina, E. A. Kalinina, A. V. Zinovik, S. N. Pashuk, N. B. Gusina |
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| Vol 24, No 6 (2025) |
STRC gene and STRCP1 pseudogene copy number variant analysis in a sample of Yakuts with normal hearing |
Abstract
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V. G. Pshennikova, A. M. Cherdonova, T. V. Borisova, F. M. Teryutin, N. A. Barashkov, S. A. Fedorova |
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| Vol 24, No 6 (2025) |
Polymorphism of cell adhesion molecules genes and undeveloped pregnancy |
Abstract
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T. A. Sukhodolova, E. V. Mashkina |
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| Vol 21, No 11 (2022) |
AZF deletion and spermatogenesis defects in men with Y chromosome mosaicism |
Abstract
PDF (Rus)
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M. I. Shtaut, N. V. Oparina, T. M. Sorokina, L. F. Kurilo, N. V. Shilova, A. V. Polyakov, V. B. Chernykh |
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