Inga V. Anisimova

1 Moskvorechye St
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 12 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

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

Identification and Targeted Correction of a Pathogenic PMP22 Deep Intronic Variant.

Journal: International journal of molecular sciences

Published: February 20, 2026

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Journal: Orphanet journal of rare diseases

Published: April 26, 2025

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Journal: International journal of molecular sciences

Published: December 21, 2024

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Journal: Clinical genetics

Published: December 02, 2024

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Expanding the Genotypic and Phenotypic Spectrum of OFD1-Related Conditions: Three More Cases.

Journal: Genes

Published: November 07, 2024

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.

Journal: International journal of molecular sciences

Published: May 29, 2023

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel.

Journal: International journal of molecular sciences

Published: October 31, 2022

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Journal: International journal of molecular sciences

Published: May 20, 2022

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Journal: Biomedical reports

Published: July 03, 2020

Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome.

Journal: European journal of medical genetics

Published: June 16, 2020

New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene

New allelic variants of non-syndromic mental retardation of type 20 caused by mutations in the MEF2C gene

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

Published: June 05, 2018

Showing 1-12 of 12

Last Updated: 09/26/2026