Varvara A. Kadnikova

1 Moskvorechye St
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 17 publications

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

Journal: International journal of molecular sciences

Published: May 01, 2026

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Journal: International journal of neonatal screening

Published: December 30, 2025

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

Developmental and epileptic encephalopathy produced by the ATP1A2 mutation

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: July 29, 2024

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas.

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas.

Journal: Frontiers in genetics

Published: May 20, 2024

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.

Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.

Journal: Frontiers in genetics

Published: April 17, 2024

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: June 14, 2023

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

Journal: Human mutation

Published: June 09, 2023

Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene

Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: April 08, 2022

Autosomal dominant spastic paraplegias

Autosomal dominant spastic paraplegias

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: June 29, 2021

AP4-assocated hereditary spastic paraplegias

AP4-assocated hereditary spastic paraplegias

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: March 17, 2021

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Journal: BMC neurology

Published: April 24, 2020

Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review

Spastic ataxia of Charlevoix-Saguenay: the first Russian case report and literature review

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: April 21, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026