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BMC Genomics|February 11, 2020
LINC01420 RNA structure and influence on cell physiologyDaria O Konina, Alexandra Yu Filatova, Mikhail Yu SkoblovBMC Medical Genomics|September 19, 2020
Genome scale analysis of pathogenic variants targetable for single base editingAlexander V Lavrov, Georgi G Varenikov, Mikhail Yu SkoblovCancer Cell International|October 12, 2020
Analysis of candidate genes expected to be essential for melanoma survivingIrina A Krivosheeva, Alexandra Yu Filatova, Sergei A Moshkovskii, et al.European Journal of Human Genetics : EJHG|October 14, 2018
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assayAlexandra Yu Filatova, Tatiana A Vasilyeva, Andrey V Marakhonov, et al.Gene|June 13, 2018
Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrumAndrey V Marakhonov, Vyacheslav Yu Tabakov, Nikolay V Zernov, et al.Chemical Biology & Drug Design|August 21, 2009
Antiherpetic properties of acyclovir 5'-hydrogenphosphonate and the mutation analysis of herpes virus resistant strainsAnna A Gus'kova, Mikhail Yu Skoblov, Anna N Korovina, et al.Clinical Genetics|January 19, 2021
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmiaAndrey V Marakhonov, Magdalena Přechová, Fedor A Konovalov, et al.Clinical Genetics|September 4, 2022
Splice-site variant in the RPS7 5'-UTR leads to a decrease in the mRNA level and development of Diamond-Blackfan anemiaLiubov O Skorodumova, Ksenia A Davydenko, Alexandra Y Filatova, et al.Human Mutation|March 26, 2019
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defectAndrey V Marakhonov, Andreas Brodehl, Roman P Myasnikov, et al.Pageof 1