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Neurology, Neuropsychiatry, Psychosomatics

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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 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 ..."
 
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