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期
标题
作者
卷 7, 编号 2 (2013)
A new allelic variant of rigid spine syndrome
Dadali E., Kadnikova V., Sharkova I., Polyakov A.
PDF
(Rus)
卷 15, 编号 3 (2021)
A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
Sharkova I., Bulakh M., Bessonova L., Shchagina O., Dadaly E.
PDF
(Rus)
卷 6, 编号 2 (2012)
Myotonic dystrophy type 2
Rudenskaya G., Polyakov A.
PDF
(Rus)
卷 16, 编号 4 (2022)
Identification of RNA markers associated with Parkinson's disease using multiplex gene expression analysis
Ardashirova N., Abramycheva N., Fedotova E., Sukhorukov V., Voronkova A., Mudzhiri N., Illarioshkin S.
PDF
(Rus)
卷 2, 编号 1 (2008)
Genetics of migraine
Azimova J., Tabeeva1 G., Klimov E.
PDF
(Rus)
卷 10, 编号 4 (2016)
The vascular type of Ehlers–Danlos syndrome
Gubanova M., Dobrynina L., Kalashnikova L.
PDF
(Rus)
卷 11, 编号 1 (2017)
Atypical clinical cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Moroz A., Abramycheva N., Ivanova E., Konovalov R., Timerbaeva S., Illarioshkin S.
PDF
(Rus)
卷 10, 编号 2 (2016)
DYT6 form of idiopathic dystonia
Krasnov M., Timerbaeva S., Abramycheva N., Stepanova M., Shpilyukova Y., Ershova M.
PDF
(Rus)
卷 13, 编号 2 (2019)
Sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO syndrome): characteristics of a series of clinical observations in Russia
Nuzhniy Y., Klyushnikov S., Seliverstov Y., Krylova T., Tsygankova P., Zakharova Y., Kasatkin D., Spirin N., Abramycheva N., Illarioshkin S.
PDF
(Rus)
卷 10, 编号 2 (2016)
Adult-onset leukoencephalopathy with vanishing white matter
Rudenskaya G., Zakharova E.
PDF
(Rus)
卷 13, 编号 4 (2019)
GNE myopathy (Nonaka myopathy)
Rudenskaya G., Chukhrova A., Ryzhkova O.
PDF
(Rus)
卷 9, 编号 3 (2015)
Сerebrotendinous xanthomatosis
Rudenskaya G., Zakharova E.
PDF
(Rus)
卷 14, 编号 1 (2020)
Clinical, molecular, and genetic characteristics of the hereditary spastic paraplegia type 3
Rudenskaya G., Kadnikova V., Beetz C., Proskokova T., Sermyagina I., Stepanova A., Fedotov V., Dadaly E., Guseva D., Markova Т., Ryzhkova O.
PDF
(Rus)
卷 9, 编号 2 (2015)
A case of myotonic dystrophy type 1 with paternal history of clinical worsening
Kurbatov S., Fedotov V., Galeeva N., Zabnenkova V., Polyakov A.
PDF
(Rus)
卷 14, 编号 4 (2020)
A clinical case of fatal familial insomnia with a transient positive response to corticosteroids
Shpilyukova Y., Seliverstov Y., Nuzhny E.
PDF
(Rus)
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