Ilya V. Kanivets
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
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Found 34 publications
Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene.
Journal: Frontiers in genetics
Published: July 21, 2025
PSG and Other Candidate Genes as Potential Biomarkers of Therapy Resistance in B-ALL: Insights from Chromosomal Microarray Analysis and Machine Learning.
Journal: International journal of molecular sciences
Published: June 16, 2025
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.
Journal: International journal of molecular sciences
Published: December 21, 2024
Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.
Journal: Clinical genetics
Published: December 02, 2024
Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16.
Journal: International journal of molecular sciences
Published: October 24, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 28, 2024
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Journal: Neurology
Published: January 02, 2024
Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.
Journal: Genes
Published: August 01, 2023
Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy
Journal: Vestnik oftalmologii
Published: March 16, 2023
Last Updated: 09/26/2026