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Year | Number of Results |
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Page 1
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16.
Hepatology. 2024.
PMID: 37976411
Free PMC article.
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D, Tsygankova P, Krylova T, Bychkov I, Itkis Y, Nikolaeva E, Mikhailova S, Sumina M, Pechatnikova N, Kurbatov S, Bostanova F, Migiaev O, Zakharova E.
Kistol D, et al. Among authors: pechatnikova n.
Int J Mol Sci. 2023 Jan 13;24(2):1597. doi: 10.3390/ijms24021597.
Int J Mol Sci. 2023.
PMID: 36675121
Free PMC article.
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Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
Yin J, Chun CA, Zavadenko NN, Pechatnikova NL, Naumova OY, Doddapaneni HV, Hu J, Muzny DM, Schaaf CP, Grigorenko EL.
Yin J, et al. Among authors: pechatnikova nl.
Genes (Basel). 2020 Jul 25;11(8):853. doi: 10.3390/genes11080853.
Genes (Basel). 2020.
PMID: 32722525
Free PMC article.
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New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency.
Baydakova GV, Tsygankova PG, Pechatnikova NL, Bazhanova OA, Nazarenko YD, Zakharova EY.
Baydakova GV, et al. Among authors: pechatnikova nl.
Int J Neonatal Screen. 2023 Aug 25;9(3):48. doi: 10.3390/ijns9030048.
Int J Neonatal Screen. 2023.
PMID: 37754774
Free PMC article.
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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. Among authors: pechatnikova n.
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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A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent.
Itkis Y, Krylova T, Pechatnikova NL, De Grassi A, Tabakov VY, Pierri CL, Aleshin V, Boyko A, Bunik VI, Zakharova EY.
Itkis Y, et al. Among authors: pechatnikova nl.
Mitochondrion. 2019 Jul;47:10-17. doi: 10.1016/j.mito.2019.04.004. Epub 2019 Apr 19.
Mitochondrion. 2019.
PMID: 31009750
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Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, Ilyushkina AA, Zabnenkova VV, Mikhaylova SV, Pechatnikova NL, Sheremet NL, Zakharova EY.
Tsygankova PG, et al. Among authors: pechatnikova nl.
J Inherit Metab Dis. 2019 Sep;42(5):918-933. doi: 10.1002/jimd.12142. Epub 2019 Jul 24.
J Inherit Metab Dis. 2019.
PMID: 31260105
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