Nina A. Demina

Moskvorechie Str, 1, 115522
Moscow, MOW, Russian Federation

Last Updated: 09/26/2026

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Found 22 publications

A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.

A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.

Journal: Genes

Published: May 17, 2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Journal: Clinical genetics

Published: November 27, 2025

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis.

Somatic mosaicism in the δ-aminolevulinate dehydratase gene causing late-onset porphyria with erythroid-driven pathogenesis.

Journal: Molecular genetics and metabolism reports

Published: October 27, 2025

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Journal: International journal of molecular sciences

Published: September 05, 2025

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

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal: Journal of medical genetics

Published: March 19, 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

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Journal: Biomedicines

Published: July 28, 2024

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

Combining chromosome conformation capture and exome sequencing for simultaneous detection of structural and single-nucleotide variants.

Journal: Genome medicine

Published: May 04, 2024

Spectrum of Mutations in PTPN11 in Russian Cohort.

Spectrum of Mutations in PTPN11 in Russian Cohort.

Journal: Genes

Published: January 29, 2024

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Journal: Gene

Published: November 27, 2023

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

Showing 1-12 of 22

Last Updated: 09/26/2026