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Title
Authors
Vol 8, No 1 (2018)
Lamb–Shaffer syndrome, deferred outside not described by SOX5 mutation
Sharkova I.V., 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 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 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 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 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 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)
1 - 7 of 7 Items

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