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| Issue | Title | |
| Vol 13, No 1 (2021) | Clinical case of epilepsy, hearing loss and mental retardation syndrome associated with mutations in SPATA5 gene | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Luk’yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko, N. N. Zavadenko | ||
| "... . The whole exome sequencing allowed to reveal compound heterozygous variants of the nucleotide sequence ..." | ||
| Vol 15, No 4 (2023) | DEPDC5-related familial focal epilepsy | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, L. M. Sushko, E. G. Lukyanova, K. V. Osipova, A. I. Krapivkin, N. N. Zavadenko | ||
| Vol 16, No 1 (2024) | SEMA6B-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, L. M. Sushko, K. V. Osipova, A. M. Mazur, S. S. Fomenko, A. I. Krapivkin, N. N. Zavadenko | ||
| Vol 15, No 3 (2023) | SPTAN1-associated developmental and epileptic encephalopathy | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, E. G. Lukyanova, E. S. Bolshakova, S. O. Ayvazyan, K. V. Osipova, P. A. Vlasov, A. I. Krapivkin, N. N. Zavadenko | ||
| "... exome sequencing. Mutations in SPTAN1 gene have been described in patients with developmental ..." | ||
| 1 - 4 of 4 Items | ||
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