Elena I. Kondratyeva

1 Moskvorechye St
Moscow, MOW 115522, Russian Federation

Last Updated: 09/26/2026

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Found 37 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

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Journal: International journal of molecular sciences

Published: February 17, 2026

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Journal: International journal of molecular sciences

Published: November 10, 2025

L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?

L467F;F508del Complex Allele in a Heterozygous State with CFTRdele2,3: What to Expect from CFTR Modulators?

Journal: International journal of molecular sciences

Published: October 23, 2025

CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.

CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures.

Journal: International journal of molecular sciences

Published: July 15, 2025

A semi-automated algorithm for image analysis of respiratory organoids.

A semi-automated algorithm for image analysis of respiratory organoids.

Journal: PLoS computational biology

Published: June 11, 2025

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

Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene.

Estimation of Chloride Channel Residual Function and Assessment of Targeted Drugs Efficiency in the Presence of a Complex Allele [L467F;F508del] in the CFTR Gene.

Journal: International journal of molecular sciences

Published: August 30, 2024

Copy Number Variations of Human Ribosomal Genes in Health and Disease: Role and Causes.

Copy Number Variations of Human Ribosomal Genes in Health and Disease: Role and Causes.

Journal: Frontiers in bioscience (Landmark edition)

Published: July 19, 2024

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.

Journal: Frontiers in genetics

Published: February 11, 2024

Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.

Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.

Journal: International journal of molecular sciences

Published: November 26, 2023

Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids.

Advances in the Study of Common and Rare CFTR Complex Alleles Using Intestinal Organoids.

Journal: Journal of personalized medicine

Published: November 20, 2023

Showing 1-12 of 37

Last Updated: 09/26/2026