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| Issue | Title | |
| Vol 16, No 2 (2024) | A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome) | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko | ||
| "... 1 gene (rs398123009, chr11:6621120, c.607C>T, p.Arg203Trp). Knowing PACS1 syndrome molecular ..." | ||
| 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 | ||
| "... In most cases, variants of nucleotide sequence in the SEMA6B gene account for developing ..." | ||
| Vol 16, No 2 (2024) | Atypical course of severe myoclonic epilepsy of infancy (Dravet syndrome) | Abstract PDF (Eng) similar documents |
| B. A. Abusueva, M. D. Shanavazova, М. A. Askevova, V. S. Khalilov, M. Yu. Bobylova | ||
| "... A clinical observation of a patient with Dravet syndrome caused by SCN1A gene mutation ..." | ||
| Vol 16, No 2 (2024) | De Vivo disease (myoclonic-astatic epilepsy combined with chorea): literature review, clinical case description | Abstract similar documents |
| N. I. Shova, V. A. Mikhailov, G. D. Romanyugo | ||
| 1 - 4 of 4 Items | ||
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