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Title
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Vol 11, No 2 (2021)
Clinical and genetic characteristics of distal arthrogryposis caused by mutations in the PIEZO2 gene
Markova T.V., Dadali E.L., Nikitin S.S., Murtazina A. .,  Mironovich O.L., Kanivets I. .
PDF
(Rus)
Vol 5, No 1 (2015)
A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins
Fedotov V.P., Kurbatov S.A., Nikitin S.S., Milovidova T.B., Galeeva N.M., Polyakov A.V.
PDF
(Rus)
Vol 2, No 4 (2012)
Infantile Pompe disease: Clinical picture, diagnosis, and treatment
Kotlukova N.P., Mikhailova S.V., Bukina T.M., Zakharova E.Y.
PDF
(Rus)
Vol 2, No 3 (2012)
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes
Fedotov V.P., Kurbatov S.A., Ivanova E.A., Galeeva N.M., Polyakov A.V.
PDF
(Rus)
Vol 3, No 3 (2013)
Infantile-onset Pompe disease (the first case diagnosed in Voronezh)
Fedotov V.P., Kleimenova I.S., Fedotova T.V., Stepanov D.S., Proskurina E.A., Zakharova E.Y.
PDF
(Rus)
Vol 3, No 3 (2013)
Proximal spinal muscular atrophy types I-IV: Specific features of molecular genetic diagnosis
Zabnenkova V.V., Dadali E.L., Polyakov A.V.
PDF
(Rus)
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