Gillespiе syndrome, caused by previously undescribed mutation in the gene <i>ITPR1<i>

by I. V. Sharkova, I. A. Akimova, O. V. Khlebnikova, E. L. Dadali
Published 2019-05-01

Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene

by E. L. Dadali, S. S. Nikitin, F. A. Konovalov, I. A. Akimova, S. A. Korostelev
Published 2018-07-01

Clinical and genetic characteristics and diagnosis of hereditary variants of neonatal epilepsy

by N. A. Semenova, E. L. Dadali, A. A. Sharkov, I. A. Akimova
Published 2017-11-01

Clinical and genetic characteristics of new allele variants of the Mowat–Wilson syndrome caused by ZEB2 gene mutations

by I. A. Akimova, T. V. Markova, F. A. Konovalov, A. V. Antonets, E. L. Dadali
Published 2018-10-01

HEREDITARY DISEASES AND SYNDROMES ACCOMPANIED BY FEBRILE CONVULSIONS: CLINICAL AND GENETIC CHARACTERISTICS AND DIAGNOSTIC PROCEDURES

by E. L. Dadali, A. A. Sharkov, I. V. Sharkova, I. V. Kanivets, F. A. Konovalov, I. A. Akimova
Published 2016-08-01

Early epileptic encephalopathy associated with SCN2A mutations: clinical and genetic description of eight novel patients

by E. L. Dadali, F. A. Konovalov, I. A. Akimova, A. A. Sharkov, G. E. Rudenskaya, S. V. Mikhaylova, S. A. Korostelev
Published 2018-07-01

Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations

by E. L. Dadali, I. A. Akimova, F. A. Konovalov, P. A. Shatalov, A. Yu. Krasnenko, V. V. Strelnikov, M. A. Ampleeva
Published 2020-01-01

Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470)

by E. I. Dadali, I. A. Akimova, N. A. Semenova, D. M. Guseva, O. A. Shchagina, A. I. Chukhrova, I. V. Kanivets, S. A. Korostelev
Published 2019-07-01