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| Issue | Title | |
| Vol 15, No 1 (2023) | Opportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseases | Abstract similar documents |
| T. V. Kozhanova | ||
| Vol 11, No 4 (2019) | Significance of exome sequencing for diagnosis of epilepsy in children | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko | ||
| Vol 11, No 4 (2019) | Early infantile epileptic encephalopathy type 16: the new clinical and genetic variant of TBC1D24 gene mutation | Abstract similar documents |
| 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 | ||
| "... epileptic encephalopathy type 16 in a child with homozygous mutation in TBC1D24 gene. Material and methods ..." | ||
| 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 | ||
| "... and epileptic encephalopathy 5 (ОMIM: 613477). The clinical history, electroencephalographic and magnetic ..." | ||
| Vol 11, No 1 (2019) | Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko | ||
| "... with epileptic encephalopathy (NGS), we detected a nucleotide heterozygous variant of the ALDH7A1 gene ..." | ||
| Vol 12, No 1 (2020) | Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability, and autism spectrum disorder | Abstract similar documents |
| T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Luk`yanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko | ||
| "... ) in patients with epileptic encephalopathy, ASD, and characteristic phenotype, it is advisable to take ..." | ||
| 1 - 6 of 6 Items | ||
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