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A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.
Mol Cytogenet. 2021 Aug 31;14(1):41. doi: 10.1186/s13039-021-00562-1.
Mol Cytogenet. 2021.
PMID: 34465353
Free PMC article.
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants.
Tsygankova P, Bychkov I, Minzhenkova M, Pechatnikova N, Bessonova L, Buyanova G, Naumchik I, Beskorovainiy N, Tabakov V, Itkis Y, Shilova N, Zakharova E.
Tsygankova P, et al.
Mol Genet Metab Rep. 2022 Jun 23;32:100889. doi: 10.1016/j.ymgmr.2022.100889. eCollection 2022 Sep.
Mol Genet Metab Rep. 2022.
PMID: 35782291
Free PMC article.
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[Autosomal dominant spastic paraplegias].
Rudenskaya GE, Kadnikova VA, Bessonova LA, Sparber PA, Kurbatov SA, Mironovich OL, Konovalov FA, Ryzhkova OP.
Rudenskaya GE, et al. Among authors: bessonova la.
Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(5):75-87. doi: 10.17116/jnevro202112105175.
Zh Nevrol Psikhiatr Im S S Korsakova. 2021.
PMID: 34184482
Russian.
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KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.
Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV.
Rudenskaya GE, et al. Among authors: bessonova la.
BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4.
BMC Neurol. 2020.
PMID: 32746806
Free PMC article.
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[Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: population dynamic factors determining the differentiation of the load of hereditary diseases in five districts].
Ginter EK, El'chinova GI, Petrin AN, Bessonova LA, Kadyshev VV, Gavrilina SG, Vafina ZI, Zinchenko RA.
Ginter EK, et al. Among authors: bessonova la.
Genetika. 2012 Sep;48(9):1105-12.
Genetika. 2012.
PMID: 23113339
Russian.
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[Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia].
Bessonova LA, El'chinova GI, Zinchenko RA.
Bessonova LA, et al.
Genetika. 2012 May;48(5):644-54.
Genetika. 2012.
PMID: 22830261
Russian.
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