Elena V. Zaklyazminskaya
Abricosovsky Lane, 2
Moscow, MOW 119991, Russian Federation
Moscow, MOW 119991, Russian Federation
Last Updated: 09/26/2026
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Found 56 publications
Case Report: Homozygous mutation in the ACAD9 gene revealed in a pediatric patient initially diagnosed with familial cardiac hypertrophy.
Journal: Frontiers in medicine
Published: March 06, 2026
Case Report: Loss-of-function TRPM4 mutation p.L91Δ implicated in progressive cardiac conduction defect.
Journal: Frontiers in physiology
Published: August 11, 2025
A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment.
Journal: Frontiers in medicine
Published: August 06, 2025
Generation of stable Cas9-EGFP expressing human induced pluripotent stem cell lines based on SeLection by Essential-gene Exon Knock-in technology.
Journal: Stem cell research
Published: March 07, 2025
Allelic dropout in the endoglin (ENG) gene caused by common duplication beyond the primer binding site.
Journal: Frontiers in genetics
Published: February 05, 2025
Molecular genetic factors of hemostasis system in assessing the risk of arterial and venous thrombosis in microvascular surgery
Journal: Khirurgiia
Published: December 12, 2024
2 Cases of New Electrocardiographic Patterns in Patients With Long QT Syndrome.
Journal: JACC. Case reports
Published: November 15, 2024
Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosin.
Journal: International journal of molecular sciences
Published: October 31, 2024
Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc Shortening.
Journal: Biochemistry. Biokhimiia
Published: April 22, 2024
Last Updated: 09/26/2026