| |
| Issue |
Title |
| |
| Vol 24, No 10 (2025) |
Developing Cost-Effective Strategies for Molecular Diagnostics of Hereditary Disorders |
Abstract
|
|
O. P. Ryzhkova, O. L. Shatokhina, M. V. Bulakh, T. B. Cherevatova, A. A. Orlova, V. V. Zabnenkova, V. A. Kovalskaia, G. E. Rudenskaya, V. A. Kadnikova, A. A. Stepanova, E. V. Zinina, T. S. Beskorovainaya, E. A. Bliznetz, T. A. Adyan, К. A. Mikhalchuk, A. L. Chukhrova, O. A. Schagina, E. L. Dadali, A. V. Polyakov, S. I. Kutsev |
| |
| Vol 24, No 10 (2025) |
Methylmalonic and Propionic Acidemias in the Expanded Newborn Screening Program in the Russian Federation: Evaluation of Diagnostic Performance and Algorithm Optimization |
Abstract
|
|
P. V. Baranova, M. V. Vasileva, N. V. Bakin, N. V. Moryakova, Kh. F. Aksyanova, A. N. Kolchina, T. A. Astakhova, T. A. Bairova, G. V. Buyanova, A. I. Pobedinskaya, Z. I. Vafina, A. I. Gamzatova, M. V. Gorda, T. T. Dmitrieva, E. R. Eremina, T. N. Kekeeva, V. S. Lobanova, L. N. Kolbasin, S. I. Papanov, Y. Y. Kotalevskaya, K. Z. Revazyan, D. V. Svetlichnaya, A. A. Kotova, E. M. Kochegurova, E. L. Kubekova, I. A. Kuzmicheva, S. A. Matulevich, I. A. Dzemina, T. V. Melnikova, M. A. Novik, O. S. Omzar, A. O. Dulush, O. P. Paveleva, I. V. Potapova, D. Kh. Saydaeva, E. A. Serebryakova, E. S. Fedchuk, Y. D. Nazarenko, S. N. Pchelina, E. Y. Zakharova |
| |
| Vol 24, No 9 (2025) |
Very long-chain acyl-CoA dehydrogenase deficiency: clinical and genetic features of the cases identified during expanded neonatal screening in the Russian Federation in 2023–2024 |
Abstract
|
|
A. A. Ilyushkina, N. V. Milovanova, G. V. Baydakova, Y. D. Nazarenko, E. S. Dvoryankina, E. G. Bakulina, G. V. Buyanova, A. I. Pobedinskaya, Z. I. Vafina, A. I. Gamzatova, N. Y. Gerasimenko, L. V. Guseva, A. V. Degtyareva, V. V. Zarubina, L. E. Ugolkova, Y. Y. Kotalevskaya, S. A. Matulevich, E. Y. Milkina, I. V. Soprunova, V. E. Ushanova, M. N. Chebukhanova, E. V. Shelkova, G. A. Erbis, G. I. Yakubovsky, I. V. Anisimova, S. N. Pchelina, E. Y. Zakharova |
| |
| 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
|
|
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 |
| |
| Vol 24, No 8 (2025) |
Sialuria: new observation of a rare inborn error of metabolism |
Abstract
|
|
A. A. Gusina, E. A. Kalinina, A. V. Zinovik, S. N. Pashuk, N. B. Gusina |
| |
| Vol 24, No 6 (2025) |
STRC gene and STRCP1 pseudogene copy number variant analysis in a sample of Yakuts with normal hearing |
Abstract
|
|
V. G. Pshennikova, A. M. Cherdonova, T. V. Borisova, F. M. Teryutin, N. A. Barashkov, S. A. Fedorova |
| |
| Vol 24, No 6 (2025) |
Polymorphism of cell adhesion molecules genes and undeveloped pregnancy |
Abstract
|
|
T. A. Sukhodolova, E. V. Mashkina |
| |
| Vol 21, No 11 (2022) |
AZF deletion and spermatogenesis defects in men with Y chromosome mosaicism |
Abstract
PDF (Rus)
|
|
M. I. Shtaut, N. V. Oparina, T. M. Sorokina, L. F. Kurilo, N. V. Shilova, A. V. Polyakov, V. B. Chernykh |
| |
| 1 - 8 of 8 Items |
|
