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Page 1
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med. 2022 Apr 5;14(1):38. doi: 10.1186/s13073-022-01019-9.
Genome Med. 2022.
PMID: 35379322
Free PMC article.
BH4-deficient hyperphenylalaninemia in Russia.
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV.
Gundorova P, et al. Among authors: itkis ys.
PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021.
PLoS One. 2021.
PMID: 33822819
Free PMC article.
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Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY.
Krylova TD, et al. Among authors: itkis ys.
Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26.
Mitochondrion. 2020.
PMID: 31669237
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Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
Kamenets EA, Gusarova EA, Milovanova NV, Itkis YS, Strokova TV, Melikyan MA, Garyaeva IV, Rybkina IG, Nikitina NV, Zakharova EY.
Kamenets EA, et al. Among authors: itkis ys.
JIMD Rep. 2020 Feb 25;53(1):39-44. doi: 10.1002/jmd2.12082. eCollection 2020 May.
JIMD Rep. 2020.
PMID: 32395408
Free PMC article.
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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: itkis ys.
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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