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Molecular Medicine Peer-reviewed scientific journal

Found: 3

Research article2014

THE PROBLEMS OF RETT SYNDROME DIAGNOSIS IN GIRLS WITHOUT A MUTATION IN THE MEСP2 GENE: APPLICATION OF MOLECULAR KARYOTYPING

Introduction. Rett syndrome (RTT) is the most common genetic syndrome underlying mental retardation and autism in girls. Etiology of this disorder is related to mutation in the MECP2 gene. However, there are many cases of this disease without the MECP2 mutatio…

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Research article2014

IDENTIFICATION OF STRUCTURAL CHROMOSOMAL REARRANGEMENTS IN CHILDREN WITH IDIOPATHIC MENTAL RETARDATION USING HIGH RESOLUTION CHROMOSOME ANALYSIS

Introduction. Diagnosis of genomic and chromosomal anomalies is based on the application of cytogenetic and molecular technologies. The aim of the study. The objective of the work was the delivery and the use of the algorythm for diagnosis of structural genomi…

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Research article2014

MOLECULAR CYTOGENETICS AND GENOMICS OF AUTISM

Genomic and molecular genetic studies of autism can identify new biological markers to determine the etiology and the molecular and cellular mechanisms of the pathogenesis of this disease. In addition to the fundamental importance of this research the laborato…

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