Electronic Journal of Medical Genetics

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Month: July 2016

[Next generation sequencing for the diagnostics and epidemiology of tuberculosis].

July 31, 2016 admin 0

Tuberculosis (TB) has overtaken HIV (human immunodeficiency virus) and malaria as the leading cause of death by an infectious disease worldwide. The reduction in the […]

Genomic approaches to diagnose rare bone disorders.

July 31, 2016 admin 0

Skeletal dysplasias are Mendelian disorders with a prevalence of approximatively 1 in every 5000 newborns and can usually be diagnosed based on clinical and radiological […]

Molecular approaches to trematode systematics: 'best practice' and implications for future study.

July 30, 2016 admin 0

To date, morphological analysis has been the cornerstone to trematode systematics. However, since the late-1980s we have seen an increased integration of genetic data to […]

Next-Generation Sequencing and Immunotherapy Biomarkers: A Medical Oncology Perspective.

July 30, 2016 admin 0

The two most important scientific developments of the past decade regarding therapies for patients with non-small cell lung cancer are the ability to exploit particular […]

Bridging the Gap: Towards a Cell-Type Specific Understanding of Neural Circuits Underlying Fear Behaviors.

July 30, 2016 admin 0

Fear and anxiety-related disorders are remarkably common and debilitating, and are often characterized by dysregulated fear responses. Rodent models of fear learning and memory have […]

Health Care Infrastructure for Financially Sustainable Clinical Genomics.

July 30, 2016 admin 0

Next-generation sequencing has evolved technically and economically into the method of choice for interrogating the genome in cancer and inherited disorders. The introduction of procedural […]

Molecular digital pathology: progress and potential of exchanging molecular data.

July 30, 2016 admin 0

Many of the demands to perform next generation sequencing (NGS) in the clinical laboratory can be resolved using the principles of telepathology. Molecular telepathology can […]

Molecular Testing in Breast Cancer: A Guide to Current Practices.

July 30, 2016 admin 0

CONTEXT: -Molecular diagnostics play a role in the management of many cancers, including breast cancer. OBJECTIVE: -To provide an update on molecular testing in current […]

Congenital myasthenic syndromes: recent advances.

July 30, 2016 admin 0

PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity […]

Transcriptome-wide measurement of plant RNA secondary structure.

July 29, 2016 admin 0

RNAs fold into intricate and precise secondary structures. These structural patterns regulate multiple steps of the RNA lifecycle, while also conferring catalytic and scaffolding functions […]

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