Search Results - I. A. Akimova

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

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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

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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

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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

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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

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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

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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

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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

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