Shchagina O - Search Results

1

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.

Semenova N, Shatokhina O, Shchagina O, Kamenec E, Marakhonov A, Degtyareva A, Taran N, Strokova T. Semenova N, et al. Among authors: shchagina o. Int J Mol Sci. 2023 Apr 18;24(8):7449. doi: 10.3390/ijms24087449. Int J Mol Sci. 2023. PMID: 37108612 Free PMC article.

2

[Merosin-deficient congenital muscular dystrophy].

Dadali EL, Rudenskaia GE, Shchagina OA, Tiburkova TB, Sukhorukov VS, Kharlamov DA, Poliakov AV. Dadali EL, et al. Among authors: shchagina oa. Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(3):83-9. Zh Nevrol Psikhiatr Im S S Korsakova. 2010. PMID: 20607928 Russian. No abstract available.

3

[Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene].

Milovidova TB, Dadali EL, Fedotov VP, Shchagina OA, Poliakov AV. Milovidova TB, et al. Among authors: shchagina oa. Zh Nevrol Psikhiatr Im S S Korsakova. 2011;111(12):48-55. Zh Nevrol Psikhiatr Im S S Korsakova. 2011. PMID: 22433810 Russian.

4

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.

Rudenskaya GE, Marakhonov AV, Shchagina OA, Lozier ER, Dadali EL, Akimova IA, Petrova NV, Konovalov FA. Rudenskaya GE, et al. J Pediatr Genet. 2019 Jun;8(2):58-62. doi: 10.1055/s-0039-1684008. Epub 2019 Mar 27. J Pediatr Genet. 2019. PMID: 31061747 Free PMC article.

5

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.

Marakhonov AV, Mishina IA, Kadyshev VV, Repina SA, Shurygina MF, Shchagina OA, Vasserman NN, Vasilyeva TA, Kutsev SI, Zinchenko RA. Marakhonov AV, et al. BMC Med Genet. 2020 Oct 22;21(Suppl 1):156. doi: 10.1186/s12881-020-01093-z. BMC Med Genet. 2020. PMID: 33092543 Free PMC article.

6

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Levchenko O, et al. Among authors: shchagina o. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

7

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

Shchagina O, Fedotov V, Markova T, Shatokhina O, Ryzhkova O, Fedotova T, Polyakov A. Shchagina O, et al. Int J Mol Sci. 2022 Aug 24;23(17):9576. doi: 10.3390/ijms23179576. Int J Mol Sci. 2022. PMID: 36076978 Free PMC article.

8

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.

Ionova SA, Murtazina AF, Tebieva IS, Getoeva ZK, Dadali EL, Chausova PA, Shchagina OA, Marakhonov AV, Kutsev SI, Zinchenko RA. Ionova SA, et al. Int J Mol Sci. 2022 Oct 12;23(20):12127. doi: 10.3390/ijms232012127. Int J Mol Sci. 2022. PMID: 36292982 Free PMC article.

9

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Murtazina A, Nikitin S, Rudenskaya G, Sharkova I, Borovikov A, Sparber P, Shchagina O, Chukhrova A, Ryzhkova O, Shatokhina O, Orlova A, Udalova V, Kanivets I, Korostelev S, Polyakov A, Dadali E, Kutsev S. Murtazina A, et al. Among authors: shchagina o. Genes (Basel). 2022 Oct 31;13(11):1991. doi: 10.3390/genes13111991. Genes (Basel). 2022. PMID: 36360228 Free PMC article.

10

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

Zinina E, Bulakh M, Chukhrova A, Ryzhkova O, Sparber P, Shchagina O, Polyakov A, Kutsev S. Zinina E, et al. Among authors: shchagina o. Int J Mol Sci. 2022 Oct 22;23(21):12710. doi: 10.3390/ijms232112710. Int J Mol Sci. 2022. PMID: 36361501 Free PMC article.

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