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Whole Genome Trio Sequencing as a Standard Routine Test in Patients With Rare Diseases - "GENOME FIRST APPROACH"

2019-05-19 19:37:09 | BioPortfolio

Published on BioPortfolio: 2019-05-19T19:37:09-0400

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Whole Genome Sequencing in the Detection of Rare Undiagnosed Genetic Diseases in Children in China

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Genetics of movement disorders-rare but important.

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Medical and Biotech [MESH] Definitions

A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.

Diseases that exhibit signs and symptoms suggestive of a connective tissue disease that do not fulfill clinical or diagnostic criteria for any one defined disease but overlap with criteria of multiple such diseases. Commonly overlapping diseases include systemic autoimmune connective tissue diseases such as RHEUMATOID ARTHRITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; and SYSTEMIC SCLEROSIS.

Incision of tissues for injection of medication or for other diagnostic or therapeutic procedures. Punctures of the skin, for example may be used for diagnostic drainage; of blood vessels for diagnostic imaging procedures.

Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)

Methods and procedures for the diagnosis of diseases of the eye or of vision disorders.

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