Elizaveta A. Fonova
Tomsk, TOM, Russian Federation
Last Updated: 09/26/2026
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Found 15 publications
A novel homozygous variant in the ATP7B gene in a patient with Wilson's disease: a case report.
Journal: Frontiers in medicine
Published: March 11, 2026
Novel Biallelic Variants in IQSEC1 in a Patient With Intellectual Developmental Disorder With Short Stature and Behavioral Abnormalities (IDDSSBA) and Corpus Callosum Dysgenesis.
Journal: American journal of medical genetics. Part A
Published: August 18, 2025
Genomics of pregnancy loss.
Journal: Journal of assisted reproduction and genetics
Published: July 07, 2025
A variant of p.Arg1623Gln of the DYNC1H1 gene in a patient with corpus callosum agenesis, polydactyly, mental development disorder, and neuromuscular system disorders
Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
Published: March 06, 2025
Genes with abnormal DNA methylation in chorionic villi of spontaneous abortions with monosomy X.
Journal: Journal of assisted reproduction and genetics
Published: October 25, 2024
Case Report: A Novel Homozygous Variant of the CTSK Gene in Rare Pycnodysostosis.
Journal: International journal of molecular sciences
Published: October 04, 2024
Genetic variants of the DLK1, KISS1R, MKRN3 genes in girls with precocious puberty.
Journal: Vavilovskii zhurnal genetiki i selektsii
Published: September 26, 2024
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.
Journal: Molecular cytogenetics
Published: September 02, 2024
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.
Journal: Molecular genetics & genomic medicine
Published: April 08, 2024
A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication.
Journal: Frontiers in genetics
Published: October 31, 2023
Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss.
Journal: Nature medicine
Published: May 26, 2023
Analysis of mutations spectrum in the ATP7B gene in patients with Wilson disease using massively parallel sequencing.
Journal: Klinicheskaia laboratornaia diagnostika
Published: May 16, 2022
Last Updated: 09/26/2026