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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 17, No 2 (2025) | A novel X-linked immune-mediated actinopathy in a boy with anti-NMDA receptor encephalitis and variant in DOCK11 gene | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhylina, T. I. Meshcheryakova, A. A. Abramov, M. M. Abidova, T. S. Kaminskaya, A. I. Krapivkin, N. N. Zavadenko | ||
| "... мальчика с выявленным гемизиготным вариантом в гене DOCK11. Дефицит DOCK11 – это новая иммуноопосредованная ..." | ||
| 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 | ||
| "... развитие фенотипа прогрессирующей миоклонус-эпилепсии и, в меньшей степени, энцефалопатии развития с ..." | ||
| 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 ..." | ||
| 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 | ||
| "... , ассоциированной с вариантами нуклеотидной последовательности в гене DEPDC5. Проведено клинико-генеалогическое ..." | ||
| Vol 14, No 3 (2022) | Whole-exome sequencing of patients with juvenile myoclonic epilepsy | Abstract similar documents |
| E. E. Timechko, O. S. Shilkina, N. V. Oreshkova, V. O. Kobanenko, E. A. Osipova, N. A. Shnayder, D. V. Dmitrenko | ||
| "... the results of whole exome sequencing in patients with JME and seek for JME associations. Material ..." | ||
| 1 - 6 of 6 Items | ||
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