Clinical and genetic characteristics of X-linked mental retardation 102 type caused by novel mutations in the DDX3X gene (OMIM:300958) by E. L. Dadali, T. V. Markova, O. A. Levchenko, A. L. Chukhrova, O. A. Shchagina

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Phenotype expansion, or double trouble: the combination of congenital disorder of glycosylation type 1i and Joubert syndrome type 17 by M. V. Sharova, T. V. Markova, A. L. Chukhrova, O. A. Shchagina, E. L. Dadali

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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

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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

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Diagnostic utility of exome sequencing for inherited peripheral neuropathies by O. A. Shchagina, O. P. Ryzhkova, A. L. Chukhrova, T. V. Milovidova, P. Gundorova, O. L. Mironovich, A. A. Orlova, M. D. Orlova, A. V. Poliakov

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