Significance of exome sequencing for diagnosis of epilepsy in children by T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko

Get full text

A rare genetic Schuurs-Hoeijmakers syndrome (PACS1 syndrome) by T. V. Kozhanova, S. S. Zhilina, T. I. Meshcheryakova, A. D. Mikhailova, A. I. Krapivkin, N. N. Zavadenko

Get full text

<i>SEMA6B</i>-related progressive myoclonus epilepsy in a patient with Klinefelter syndrome by 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

Get full text

Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation by A. A. Kholin, I. D. Fedonyuk, O. P. Dovelman, N. N. Zavadenko, T. V. Kozhanova, E. A. Kholina, G. Sh. Khondkarian, E. S. Il`ina

Get full text

<i>SPTAN1</i>-associated developmental and epileptic encephalopathy by 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

Get full text

New mutation in the TRIP4 gene associated with congenital muscular dystrophy Davignon–Chauveau type (clinical case) by T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, I. V. Kanivets, V. S. Suchorukov, P. L. Anufriev, T. I. Baranich, A. A. Kozina, A. G. Prityko

Get full text