Mikhail Bolkov
rnoi.ru
0000-0003-2763-9907
Ural state law university
8 papers found
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In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function
Novel high-risk missense mutations identification in FAT4 gene causing Hennekam syndrome and Van Maldergem syndrome 2 through molecular dynamics simulation
Analysis of the TREC and KREC Levels in the Dried Blood Spots of Healthy Newborns with Different Gestational Ages and Weights
In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis
Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis
Translation into Russian of the Classification of inborn errors of immunity in humans updated by experts from a Committee on Congenital Immunity Errors of International Union of Immunological Societies (Russian version 2019)
Newborn Screening through TREC, TREC/KREC system for Primary Immunodeficiency with limitation of TREC/KREC. Comprehensive review
Phenotypic manifestation of homozygous partial deletion of the chromosome 1 segment spanning <i>CFHR3</i> region
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