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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.
Mignot C, von Stülpnagel C, Nava C, Ville D, Sanlaville D, Lesca G, Rastetter A, Gachet B, Marie Y, Korenke GC, Borggraefe I, Hoffmann-Zacharska D, Szczepanik E, Rudzka-Dybała M, Yiş U, Çağlayan H, Isapof A, Marey I, Panagiotakaki E, Korff C, Rossier E, Riess A, Beck-Woedl S, Rauch A, Zweier C, Hoyer J, Reis A, Mironov M, Bobylova M, Mukhin K, Hernandez-Hernandez L, Maher B, Sisodiya S, Kuhn M, Glaeser D, Weckhuysen S, Myers CT, Mefford HC, Hörtnagel K, Biskup S; EuroEPINOMICS-RES MAE working group; Lemke JR, Héron D, Kluger G, Depienne C. Mignot C, et al. Among authors: bobylova m. J Med Genet. 2016 Aug;53(8):511-22. doi: 10.1136/jmedgenet-2015-103451. Epub 2016 Mar 17. J Med Genet. 2016. PMID: 26989088
[Differential diagnosis of paroxysms of tonic muscle tension in children of early age with delay of psychomotor development and abnormal neurologic status].
Mironov MB, Bobylova MY, Nekrasova IV, Krasilschikova TM, Gunchenko MM, Sarzhina MN, Petrukhin AS, Burd SG, Batisheva TT. Mironov MB, et al. Among authors: bobylova my. Zh Nevrol Psikhiatr Im S S Korsakova. 2017;117(6):4-9. doi: 10.17116/jnevro2017117614-9. Zh Nevrol Psikhiatr Im S S Korsakova. 2017. PMID: 28745663 Russian.
[Epilepsy in Angelman syndrome].
Bobylova MY, Mukhin KY, Kuzmich GV, Glukhova LY, Pylayeva OA. Bobylova MY, et al. Zh Nevrol Psikhiatr Im S S Korsakova. 2022;122(7):100-105. doi: 10.17116/jnevro2022122071100. Zh Nevrol Psikhiatr Im S S Korsakova. 2022. PMID: 35904299 Russian.
[Etiology of stroke in children].
Petrukhin AS, Bobylova MY, Michailova SV. Petrukhin AS, et al. Among authors: bobylova my. Zh Nevrol Psikhiatr Im S S Korsakova. 2015;115(3 Pt 2):64-74. doi: 10.17116/jnevro20151153264-74. Zh Nevrol Psikhiatr Im S S Korsakova. 2015. PMID: 26121000 Russian.
18 results