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Page 1
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Int J Mol Sci. 2021 Oct 8;22(19):10887. doi: 10.3390/ijms221910887.
Int J Mol Sci. 2021.
PMID: 34639227
Free PMC article.
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.
Semenova N, Marakhonov A, Ampleeva M, Kurkina M, Baydakova G, Skoblov M, Taran N, Babak O, Shchukina E, Strokova T.
Semenova N, et al. Among authors: ampleeva m.
Int J Mol Sci. 2022 Nov 30;23(23):15026. doi: 10.3390/ijms232315026.
Int J Mol Sci. 2022.
PMID: 36499355
Free PMC article.
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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene.
Sharova M, Skoblov M, Dadali E, Demina N, Shchagina O, Konovalov F, Ampleeva M, Sharkova I, Kutsev S.
Sharova M, et al. Among authors: ampleeva m.
Front Neurol. 2022 Nov 8;13:1008937. doi: 10.3389/fneur.2022.1008937. eCollection 2022.
Front Neurol. 2022.
PMID: 36425804
Free PMC article.
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Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report.
Akimova D, Markova T, Ampleeva M, Skoblov M.
Akimova D, et al. Among authors: ampleeva m.
Front Genet. 2024 Jan 5;14:1303807. doi: 10.3389/fgene.2023.1303807. eCollection 2023.
Front Genet. 2024.
PMID: 38250576
Free PMC article.
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