Order results by:
| Issue | Title | |
| 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 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) | 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 | ||
| "... PACS1 neurodevelopmental disorder (Schuurs-Hoeijmakers syndrome; MIM #615009) is a rare autosomal ..." | ||
| Vol 16, No 3 (2024) | Drug-resistant epilepsy cases in chromosomal pathology | Abstract similar documents |
| L. B. Novikova, A. P. Akopyan, R. F. Latypova, N. M. Faizullina | ||
| "... development, developmental microanomalies, pyramidal atactic syndrome and hand joint hypermobility ..." | ||
| 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 | ||
| "... ) deficiency. We provide a review of publications describing various clinical manifestations of this syndrome ..." | ||
| 1 - 5 of 5 Items | ||
Search tips:
- Search terms are case-insensitive
- Common words are ignored
- By default articles containing any term in the query are returned (i.e., OR is implied)
- Make sure that a word exists in an article by prefixing it with +; e.g., +journal +access scholarly academic
- Combine multiple words with AND to find articles containing all terms; e.g., education AND research
- Exclude a word by prefixing it with - or NOT; e.g., online -politics or online NOT politics
- Search for an exact phrase by putting it in quotes; e.g., "open access publishing". Hint: Quoting Chinese or Japanese words will help you to find exact word matches in mixed-language fields, e.g. "中国".
- Use parentheses to create more complex queries; e.g., archive ((journal AND conference) NOT theses)
