E. A. Bliznetz
Research Centre for Medical Genetics(RU)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Connexins and lens biology, Neuroscience of respiration and sleep, Vestibular and auditory disorders, Sexual Differentiation and Disorders
Most-Cited Works
- → Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect(2009)43 cited
- → Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions(2017)37 cited
- → Changes in the connexin 26 gene (GJB2) in Russian patients with hearing loss: Results of long-term molecular diagnostics of hereditary nonsyndromic hearing loss(2012)27 cited
- → Epidemiology of hearing loss in children of the first year of life(2018)26 cited
- → Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)(2014)24 cited
- → Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus(2018)23 cited
- → Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population(2020)17 cited
- → Twenty years of clinical studies of GJB2-linked hearing loss in Russia(2018)10 cited
- → New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance(2014)9 cited
- → Hidden X Chromosomal Mosaicism in a 46,XX Male(2009)8 cited