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| Issue | Title | |
| Vol 9, No 1S (2017): SPECIAL ISSUE: EPILEPSY | A clinical case of epilepsy in a female patient with double mutations in the SCN2A and PCDH19 genes | Abstract similar documents |
| M. B. Mironov, M. Yu. Bobylova, S. G. Burd, T. M. Krasilshchikova, M. M. Gunchenko, M. N. Sarzhina, T. T. Batysheva | ||
| "... Представлено описание пациентки 6 лет с эпилепсией, обусловленной мутациями в генах SCN2A и PCDH ..." | ||
| Vol 10, No 1S (2018): СПЕЦВЫПУСК: ЭПИЛЕПСИЯ | A clinical case of SYNGAP1-associated encephalopathy in a girl with epilepsy, intellectual disability, and autism | Abstract similar documents |
| N. N. Savelieva, A. V. Yakunina, I. E. Poverennova | ||
| "... диагностике, так как кроме мутации SYNGAP1, с2214_2217delTGAG de novo были выявлены гетерозиготная мутация ..." | ||
| Vol 6, No 2 (2014) | A clinical case of SYNGAP1, с2214_2217delTGAG de novo gene mutations in a girl with epilepsy, mental retardation, autism, and movement disorders | Abstract similar documents |
| M.Yu Bobylova, M.B. Mironov, A.V. Kulikov, M.V Kazakova, M.A. Bogacheva, Yu.A. Tankevich, L.Yu. Glukhova, E.I Barletova, M.O. Abramov, K.Yu. Mukhin, G.E. Rudenskaya | ||
| "... представлен случай мутации SYNGAP1 у пациентки 8 лет с симптоматической эпилепсией с эпилептическим ..." | ||
| Vol 6, No 1S (2014): Special issue "Epilepsy" | Genetics of Epilepsy: What for and How to Examine Children with Epilepsy E.D. Belousova | Abstract similar documents |
| E. D. Belousova | ||
| "... молекулярной диагностике. При синдроме Драве выявление характерной мутации позволяет определить прогноз ..." | ||
| Vol 7, No 3 (2015) | The late diagnosis of double cortex syndrome in a 36-year-old woman with resistant atonic seizures | Abstract similar documents |
| N. A. Shnayder, D. V. Dmitrenko, Yu. B. Govorina, E. A. Kantimirova, O. V. Alekseeva, A. A. Molgachev, A. A. Makarkin | ||
| "... частота в популяции составляет 1 на 200 тыс. Причина заболевания – мутация гена DCX (синонимы: DBCN, XLIS ..." | ||
| Vol 11, No 4 (2019) | Association of the carriage of BRD2 rs206787 and rs516535 and GJD2 rs3743123 polymorphisms with juvenile myoclonic epilepsy in Caucasian patients of Siberia | Abstract similar documents |
| O. S. Shilkina, N. A. Shnayder, S. N. Zobova, D. V. Dmitrenko, P. V. Moskaleva | ||
| "... -рецессивным типом наследования. Предполагается аутосомно-доминантный тип наследования мутаций гена BRD ..." | ||
| 1 - 6 of 6 Items | ||
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