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Neuromuscular Diseases

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Dadali E.I., Akimova I.A., Semenova N.A., Guseva D.M., Shchagina O.A., Chukhrova A.I., Kanivets I.V., Korostelev S.A. Clinical and genetic characteristics of ponto-cerebellar hypoplasia caused by mutations in the TSEN54 gene (OMIM: 277470). Neuromuscular Diseases. 2019;9(2):30-36. (In Russ.) https://doi.org/10.17650/2222-8721-2019-9-2-30-36



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ISSN 2222-8721 (Print)
ISSN 2413-0443 (Online)