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Browsing Materials of conferences and seminars by Author "e55e69f1-81b9-449d-a88b-6876e84495e8"

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Browsing Materials of conferences and seminars by Author "e55e69f1-81b9-449d-a88b-6876e84495e8"

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  • HEREDITARY DISEASES AND CONGENITAL MALFORMATIONS REGISTRATION AND MONITORING INFORMATION SYSTEM 
    Nazarova, L.; Tolegen, N.; Bayanova, M. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
    Introduction. Database on hereditary diseases is one of the main tasks of healthcare. Register of hereditary pathology allows to assess accurately the frequency of childbirths with various hereditary diseases and congenital ...
  • Molecular Genetic Approaches in Diagnosis of Duschenne/ Becker Muscular Dystrophy 
    Bayanova, M.; Uahit, R.; Tolegen, N.; Nazarova, L.; Abilkhadirova, A.; Khamzina, A.; Nauryzbaeva, A.; Jaxybayeva, A. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
    Introduction: Duchenne/Becker muscular dystrophy (DMD/BMD) is inherited X-linked disease with a frequency of 1: 3,500 newborn males. Deletions and duplications in the DMD gene are errors of reading frameshift and premature ...