Denis V. Pyankov
Moscow, MOW, Russian Federation
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.
Journal: Brain : a journal of neurology
Published: May 25, 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
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion.
Journal: Human genetics
Published: January 24, 2023
Tumor-associated macrophages respond to chemotherapy by detrimental transcriptional reprogramming and suppressing stabilin-1 mediated clearance of EGF.
Journal: Frontiers in immunology
Published: July 22, 2022
Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene.
Journal: Frontiers in genetics
Published: March 02, 2022
Pediatric Encephalopathy: Clinical, Biochemical and Cellular Insights into the Role of Gln52 of GNAO1 and GNAI1 for the Dominant Disease.
Journal: Cells
Published: July 29, 2021
Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.
Journal: Journal of autism and developmental disorders
Published: August 21, 2020
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Journal: BMC medical genomics
Published: July 30, 2020
Multiple Chromoanasynthesis in a Rare Case of Sporadic Renal Leiomyosarcoma: A Case Report.
Journal: Frontiers in oncology
Published: June 11, 2020
SNP-Based Chromosomal Microarray Analysis for Detecting DNA Copy Number Variations in Fetuses with a Thickened Nuchal Fold.
Journal: Sovremennye tekhnologii v meditsine
Published: May 29, 2020
Last Updated: 09/26/2026