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Latest scientific articles

  • Publications about genetic testing for neurological disorders

    Mental retardation X-linked

    Intellectual disability (ID), also referred to as mental retardation (MR), is a lifelong disability that presents in infancy/early childhood and it is characterized by below-average intelligence and a lack of skills…

  • Publications about genetic testing for neurological disorders

    Nemaline myopathy

    Nemaline myopathy (NEM, NM) is one of the most common congenital myopathies characterized by hypotonia, weakness, and absent deep tendon reflexes. Muscle weakness is usually most severe in the face, the neck flexors, and…

  • Diagnostic Yield and Utility of Clinical Exome Sequencing

    Clinical exome sequencing (CES) is sequencing and analysis of the exons of only clinically-relevant genes compared to sequencing the exons of all 20,000 genes in whole exome sequencing (WES).