Diversity of <i>VCP</i>-related phenotypes: case report and literature review by G. E. Rudenskaya, O. L. Mironovich, A. F. Murtazina, O. A. Shchagina

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Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the <i>NR2F1</i> gene by E. L. Dadali, A. O. Borovikov, O. A. Shchagina, O. L. Mironovich

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Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene by T. V. Markova, E. L. Dadali, S. S. Nikitin, A.  F . Murtazina, O. L.  Mironovich, I.  V.   Kanivets

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Spinal and bulbar muscular atrophy with pseudomyotonia phenomena: a clinical case report by S. S. Nikitin, V. N. Grigoryeva, K. A. Mashkovich, O. L. Mironovich, N. V. Ryadninskaya, A. V. Polyakov

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Сlinical and Radiological Characteristics of Two Patients with Acromesomelic Dysplasia Maroteaux Type with New Mutation in the <i>NRP2</i> Gene by T. V. Markova, V. M. Kenis, O. L. Mironovich, O. A. Shchagina, T. S. Nagornova, E. V. Melchenko, 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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