NUR Home
→
02.National Laboratory Astana
→
Materials of conferences and seminars
→
MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE
→
Abstracts
→
Browsing Abstracts by Author

Browsing Abstracts by Author "91c508a9-2c76-4ed6-8846-9f752aaadb9f"

Now showing items 1-4 of 4

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 ...
MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION OF MICRODELETION SYNDROMS

Uakhit, R.; Tolegen, N.; Bayanova, M. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)

Introduction: Microdeletion syndromes are an extensive group of diseases affecting various organs and systems. These diseases are caused by deletions of small sections of chromosomes. Previously, most microdeletion ...
THE ROLE OF THE STANDARD CYTOGENETIC STUDY OF BONE MARROW CELLS IN THE DIAGNOSIS OF ACUTE LYMPHOBLASTIC LEUKEMIA IN CHILDREN

Zauatbayeva, G.; Tolegen, N.; Bayanova, M. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)

Introduction: Acute lymphoblastic leukemia is a disease of the hematopoietic system caused by a violation of certain functions of the bone marrow. The disease is characterized by excessive proliferation of white blood ...