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Browsing 02.National Laboratory Astana by Author "137186bc-ceb4-4e52-9056-9e82cb6b2d2a"

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Browsing 02.National Laboratory Astana by Author "137186bc-ceb4-4e52-9056-9e82cb6b2d2a"

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  • 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 ...
  • Mutation Analysis of the NRLP3 Gene in Children With Cryopyrin-Associated Fever 
    Auyeryanova, T.; Uakhit, R.; Assylbekova, M.; Mukusheva, Z.; Bayanova, M. (International conference "MODERN PERSPECTIVES FOR BIOMEDICAL SCIENCES: FROM BENCH TO BEDSIDE”; National Laboratory Astana, 2020)
    Introduction: CAPS is a group of severe multi-system, auto-inflammatory diseases with an autosomal dominant type of inheritance associated with mutations in the cryopyrin NLRP3 gene located on the first chromosome (1q44). ...