| Issue |
Section |
Title |
File |
| Vol 52, No 2 (2016) |
Human Genetics |
Reliability of the search for 19 common mutations in the CFTR gene in Russian cystic fibrosis patients and the calculated frequency of the disease in Russian Federation |
|
| Vol 52, No 12 (2016) |
Human Genetics |
Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia) |
|
| Vol 53, No 1 (2017) |
Human Genetics |
Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders |
|
| Vol 53, No 6 (2017) |
Human Genetics |
Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness |
|
| Vol 53, No 7 (2017) |
Human Genetics |
DNA copy number analysis of the DFNB1 hereditary hearing loss locus |
|
| Vol 53, No 7 (2017) |
Human Genetics |
Evaluation of clinical significance of с.2956G>A (rs112287730) polymorphism in FBN1 gene in Marfan syndrome |
|
| Vol 53, No 7 (2017) |
Human Genetics |
The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic |
|
| Vol 54, No 10 (2018) |
Human Genetics |
Updating Diagnostic Spectrum of Recurring CFTR Mutations |
|
| Vol 54, No 1 (2018) |
Medical Genetics |
Hereditary Disorders in Circassians of the Karachay-Cherkess Republic |
|
| Vol 54, No 2 (2018) |
Reviews and Theoretical Articles |
Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options |
|
| Vol 54, No 6 (2018) |
Human Genetics |
Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic |
|
| Vol 54, No 6 (2018) |
Human Genetics |
HTT Gene Premutation Allele Frequencies in the Russian Federation |
|
| Vol 54, No 7 (2018) |
Human Genetics |
Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic |
|
| Vol 55, No 2 (2019) |
Human Genetics |
Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies |
|
| Vol 55, No 5 (2019) |
Human Genetics |
Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome |
|
| Vol 55, No 8 (2019) |
Human Genetics |
Complex Molecular Diagnostics of Hemophilia A in Russian Patients |
|
| Vol 55, No 8 (2019) |
Human Genetics |
Molecular-Genetic Study of Phenylketonuria in Patients from Georgia |
|
| Vol 55, No 12 (2019) |
Human Genetics |
Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease |
|
