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

Get full text

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

Get full text

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

Get full text

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

Get full text

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

Get full text