New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2 by E. L. Dadali, I. V. Sharkova, S. S. Nikitin, F. A. Konovalov

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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 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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Clinical and genetic characteristics of autosomal recessive axonal neuropathy with neuromyotonia in Russian patients by E. L. Dadali, S. S. Nikitin, S. A. Kurbatov, A. F. Murtazina, I. V. Sharkova, O. A. Shchagina, F. A. Konovalov

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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 EXOME SEQUENCING TO DETECT GENETICALLY DETERMINED DISEASES OF THE SKELETON by I V Kanivets, F A Konovalov, S A Korostelev, N A Belova, F S Katasonov, D V Piankov, D N Khmelkova

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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 the early 66th type epileptic encephalopathy (literature review and own observation) by T. V. Markova, A. O. Borovikov, E. R. Lozier, A. A. Isaev, V. S. Kaimonov, E. A. Pomerantseva, F. A. Konovalov, O. A. Schagina, E. L. Dadali

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Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia by E. L. Dadali, A. Kh.-M. Маkаоv, V. A. Galkina, F. A. Konovalov, A. V. Polyakov, M. V. Bulakh, R. A. Zinchеnkо

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Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

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Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population by M. E. Ivanova, I. V. Zolnikova, I. E. Khatsenko, V. V. Strelnikov, F. A. Konovalov, E. R. Lozier, M. A. Ampleeva, A. V. Antonets, I. V. Kanivets, K. V. Gorgisheli, D. S. Atarshchikov, D. V. Pyankov, S. A. Korostelev, E. B. Kuznetsova, D. Bar, L. M. Balashova, Zh. M. Salmasi

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