Ludmila A. Bessonova

Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

Journal: International journal of molecular sciences

Published: March 20, 2026

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 rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9.

A rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9.

Journal: Vavilovskii zhurnal genetiki i selektsii

Published: February 14, 2025

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

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

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

Autosomal dominant spastic paraplegias

Autosomal dominant spastic paraplegias

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

Published: June 29, 2021

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Journal: Genes

Published: July 01, 2020

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

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.

Journal: Familial cancer

Published: April 17, 2019

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Journal: Clinical genetics

Published: September 12, 2018

Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: population dynamic factors determining the differentiation of the load of hereditary diseases in five districts

Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: population dynamic factors determining the differentiation of the load of hereditary diseases in five districts

Journal: Genetika

Published: November 02, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026