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Neurology, Neuropsychiatry, Psychosomatics

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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
"... in  differential diagnosis, since in addition to SYNGAP1 mutation (c2214_2217deltgag), heterozygous BCKDHB gene ..."
 
Vol 9, No 1 (2017) The genetic basis of Parkinson's disease Abstract  similar documents
A. A. Tappakhov, T. E. Popova, T. Ya. Nikolaeva, P. I. Gurieva, N. A. Shnaider, M. M. Petrova, M. R. Sapronova
"... , including next generation sequencing, can annually identify new gene mutations that underlie sporadic PD ..."
 
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