Nikolay A. Skryabin
Tomsk, TOM, Russian Federation
Last Updated: 09/26/2026
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Found 44 publications
A novel homozygous variant in the ATP7B gene in a patient with Wilson's disease: a case report.
Journal: Frontiers in medicine
Published: March 11, 2026
Positive and Negative Symptoms of Schizophrenia and Polymorphic Variants of the TCF4 Gene: Pilot Associative Study.
Journal: International journal of molecular sciences
Published: September 12, 2025
Embryoid bodies as a model system for exploring early human embryonic development.
Journal: Journal of assisted reproduction and genetics
Published: March 26, 2025
Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.
Journal: International journal of molecular sciences
Published: October 04, 2024
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.
Journal: Molecular cytogenetics
Published: September 02, 2024
Cystic fibrosis therapy: from symptoms to the cause of the disease.
Journal: Vavilovskii zhurnal genetiki i selektsii
Published: August 16, 2024
Observation of Light Localization at the Edges of Quasicrystal Waveguide Arrays.
Journal: Physical review letters
Published: August 02, 2024
Transcription factor TCF4: structure, function, and associated diseases.
Journal: Vavilovskii zhurnal genetiki i selektsii
Published: January 16, 2024
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Journal: International journal of molecular sciences
Published: November 26, 2023
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).
Journal: Current issues in molecular biology
Published: November 22, 2023
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Journal: Frontiers in genetics
Published: October 31, 2023
Case Report: A Novel Homozygous Variant of the SERPINF1 Gene in Rare Osteogenesis Imperfecta Type VI.
Journal: International journal of molecular sciences
Published: February 22, 2023
Last Updated: 09/26/2026