Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation

by I. V. Sharkova, E. L. Dadali
Published 2018-04-01

Retinal abiotrophy in mitochondrial pathology: NARP sindrome (a clinical case)

by O. V. Khlebnikova, I. V. Sharkova
Published 2019-03-01

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
Published 2016-07-01

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

Comparative analysis of features phenotype limb-girdle muscular dystrophy 2А and 2I types

by I. V. Sharkova, E. L. Dadali, O. P. Ryzhkova, V. N. Evdokimenkov
Published 2015-02-01

Comparative analysis of phenotypes features in two common genetic variants of limb-girdle muscular dystrophy

by I. V. Sharkova, E. L. Dadali, I. V. Ugarov, O. P. Ryzhkova, A. V. Polyakov
Published 2015-09-01

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

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
Published 2017-11-01

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

by E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova
Published 2019-11-01

Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN...

by A. O. Borovikov, I. V. Sharkova, O. P. Ryzhkova, A. L. Chukhrova, O. A. Schagina, T. V. Markova, E. L. Dadali
Published 2019-04-01