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Page 1
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Genes (Basel). 2021 Jan 6;12(1):66. doi: 10.3390/genes12010066.
Genes (Basel). 2021.
PMID: 33418990
Free PMC article.
A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy.
Myasnikov RP, Kulikova OV, Meshkov AN, Bukaeva AA, Kiseleva AV, Ershova AI, Petukhova AV, Divashuk MG, Zotova ED, Sotnikova EA, Abisheva AA, Muraveva AV, Koretskiy SN, Popov SV, Utkina MV, Snigir EA, Mitrofanov SI, Konureeva KD, Mershina EA, Sinitsyn VE, Yudin SM, Drapkina OM.
Myasnikov RP, et al. Among authors: bukaeva aa.
Genes (Basel). 2022 Sep 28;13(10):1750. doi: 10.3390/genes13101750.
Genes (Basel). 2022.
PMID: 36292635
Free PMC article.
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A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene.
Myasnikov R, Bukaeva A, Kulikova O, Meshkov A, Kiseleva A, Ershova A, Petukhova A, Divashuk M, Zotova E, Sotnikova E, Kharlap M, Zharikova A, Vyatkin Y, Ramensky V, Abisheva A, Muraveva A, Koretskiy S, Kudryavtseva M, Popov S, Utkina M, Mershina E, Sinitsyn V, Kogan E, Blagova O, Drapkina O.
Myasnikov R, et al. Among authors: bukaeva a.
Genes (Basel). 2022 Feb 7;13(2):309. doi: 10.3390/genes13020309.
Genes (Basel). 2022.
PMID: 35205353
Free PMC article.
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Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.
Zaklyazminskaya E, Mikhailov V, Bukaeva A, Kotlukova N, Povolotskaya I, Kaimonov V, Dombrovskaya A, Dzemeshkevich S.
Zaklyazminskaya E, et al. Among authors: bukaeva a.
Sci Rep. 2019 Nov 11;9(1):16409. doi: 10.1038/s41598-019-52911-1.
Sci Rep. 2019.
PMID: 31712709
Free PMC article.
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Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels.
Shestak AG, Bukaeva AA, Saber S, Zaklyazminskaya EV.
Shestak AG, et al. Among authors: bukaeva aa.
Front Genet. 2021 Feb 1;12:620337. doi: 10.3389/fgene.2021.620337. eCollection 2021.
Front Genet. 2021.
PMID: 33633783
Free PMC article.
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