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Title
Authors
Vol 12, No 3 (2022)
Juvenile amyotrophic lateral sclerosis type 4: case report and review
Rudenskaya G.E., Nikitin S.S., Shatokhina O.L., Shchagina O.A.
PDF
(Rus)
Vol 6, No 2 (2016)
New allelic variant of autosomal recessive hereditary motor and sensory neuropathy type 2S resulted from mutations in gene IGHMBP2
Dadali E.L., Sharkova I.V., Nikitin S.S., Konovalov F.A.
PDF
(Rus)
Vol 11, No 3 (2021)
Aymé–Gripp syndrome in a Russian patient with a newly detected mutation in the MAF gene
Dadali E.L., Markova T.V., Ryzhkova O.P.
PDF
(Rus)
Vol 6, No 2 (2016)
Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia
Dadali E.L., Маkаоv A.K., Galkina V.A., Konovalov F.A., Polyakov A.V., Bulakh M.V., Zinchеnkо R.A.
PDF
(Rus)
Vol 11, No 1 (2021)
Diversity of VCP-related phenotypes: case report and literature review
Rudenskaya G.E., Mironovich O.L., Murtazina A.F., Shchagina O.A.
PDF
(Rus)
Vol 6, No 1 (2016)
Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy
Fedotov V.P., Ryzhkova O.P., Polyakov A.V.
PDF
(Rus)
Vol 10, No 4 (2020)
Clinical and genetic charsteristics of the Bosch–Boonstra–Schaaf syndrome due to novel mutations in the NR2F1 gene
Dadali E.L., Borovikov A.O., Shchagina O.A., Mironovich O.L.
PDF
(Rus)
Vol 6, No 1 (2016)
Laboratory studies and Pompe disease: from suspicion to therapy monitoring
Savost’yanov K.V., Nikitin S.S., Karpacheva K.E.
PDF
(Rus)
Vol 10, No 4 (2020)
Diagnostic utility of exome sequencing for inherited peripheral neuropathies
Shchagina O.A., Ryzhkova O.P., Chukhrova A.L., Milovidova T.V., Gundorova P., Mironovich O.L., Orlova A.A., Orlova M.D., Poliakov A.V.
PDF
(Rus)
Vol 14, No 2 (2024)
EBF3-associated hypotonia, ataxia and delayed development syndrome – the mask cerebral palsy (case report)
Afandieva L.Z., Gaynetdinova D.D., I D.V.
PDF
(Rus)
Vol 10, No 1 (2020)
Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
Markova T.V., Borovikov A.O., Lozier E.R., Isaev A.A., Kaimonov V.S., Pomerantseva E.A., Konovalov F.A., Schagina O.A., Dadali E.L.
PDF
(Rus)
Vol 13, No 3 (2023)
Clinical and genetic characteristics of type 7 distal arthrogryposis caused by a pathogenic variant in the MYH8 gene
Sharkova I.V., Nikitin S.S., Markova T.V., Voskanyan A.E., Melnik E.A., Shchagina O.A., Dadali E.L.
PDF
(Rus)
Vol 9, No 3 (2019)
The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage
Bardakov S.N., Deev R.V., Mavlikeev M.O., Umakhanova Z.R., Akhmedova P.G., Magomedova R.M., Zulfugarov K.Z., Tsargush V.A., Chekmareva I.A., Yakovlev I.A., Dalgatov G.D., Yakubovsky G.I., Isaev A.A.
PDF
(Rus)
Vol 13, No 2 (2023)
Clinical and genetic characteristics of primary hypertrophic osteoarthropathy
Dadali E.L., Markova T.V., Kenis V.M., Nagornova T.S., Nikitin S.S.
PDF
(Rus)
Vol 8, No 1 (2018)
Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
Sharkova I.V., Dadali E.L.
PDF
(Rus)
1 - 15 of 15 Items

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