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International Journal of Molecular Sciences|May 4, 2026
Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic VariantPolina Chausova, Aysylu Murtazina, Igor Bychkov, et al.
Clinical Neurology and Neurosurgery|January 12, 2021
POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adultsEvgenii Nuzhnyi, Yury Seliverstov, Sergey Klyushnikov, et al.
Science'S STKE : Signal Transduction Knowledge Environment|June 7, 2007
High-sensitivity detection and quantitative analysis of native protein-protein interactions and multiprotein complexes by flow cytometryAdam G Schrum, Diana Gil, Elaine P Dopfer, et al.
Cell Reports|June 9, 2021
Ontogenic timing, T cell receptor signal strength, and Notch signaling direct γδ T cell functional differentiation in vivoEdward L Y Chen, Christina R Lee, Patrycja K Thompson, et al.
European Journal of Human Genetics : EJHG|May 7, 2021
Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type CIgor Bychkov, Alexandra Filatova, Grigory Perelman, et al.
International Journal of Molecular Sciences|October 13, 2021
Complex Transposon Insertion as a Novel Cause of Pompe DiseaseIgor Bychkov, Galina Baydakova, Alexandra Filatova, et al.
Nature Immunology|December 6, 2005
Mechanistic basis of pre-T cell receptor-mediated autonomous signaling critical for thymocyte developmentSho Yamasaki, Eri Ishikawa, Machie Sakuma, et al.
Journal of Immunology (Baltimore, Md. : 1950)|November 20, 2008
Egr2 is required for Bcl-2 induction during positive selectionJens-Peter Holst Lauritsen, Sridevi Kurella, Sang-Yun Lee, et al.
Molecular Genetics and Metabolism Reports|July 5, 2022
Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variantsPolina Tsygankova, Igor Bychkov, Marina Minzhenkova, et al.
Stem Cell Research|November 25, 2023
Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VIEkaterina Kondrateva, Olga Grigorieva, Irina Panchuk, et al.
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