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Issue | Title | |
Vol 4, No 2 (2012) | EPILEPSY IN CHILDREN WITH MYTOCHONDRIAL DISEASES: DIAGNOSTICS AND TREATMENT FEATURES | Abstract similar documents |
N. N. Zavadenko, A. A. Kholin | ||
"... features of the MD, accompanying by epilepsy. Two case reports are presented of MELAS syndrome and Alpers ..." | ||
Vol 14, No 2 (2022) | Clinical case of distal arthrogryposis in combination with epilepsy due to an unbalanced translocation | Abstract similar documents |
T. V. Kozhanova, S. S. Zhilina, T. I. Meshсheryakova, N. P. Prokopyeva, A. G. Prityko, N. N. Zavadenko | ||
"... with Freeman–Sheldon syndrome had no mutations in genes associated with distal arthrogryposis. Chromosomal ..." | ||
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 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 | ||
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