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What is Gabriele de Vries syndrome?
What are the symptoms of YY1 syndrome?
What diseases can be detected through genetic testing?
How common is it to be a carrier of a genetic disorder?
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Bookshelf ID: NBK1116. Excerpt. GeneReviews, an ... Gabriele-de Vries Syndrome · Gaucher Disease ... Primary Coenzyme Q10 Deficiency Overview · Primary ...
30.05.2019 · Gabriele-de Vries syndrome is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected ...
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22.02.2008 · Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or ...
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25.02.2008 · Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location ...
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GeneReviews (www.ncbi.nlm.nih.gov/books/NBK1116/) is a compendium of continually updated, expert-authored and peer-reviewed disease descriptions that relate ...
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30.01.2006 · Maple syrup urine disease (MSUD) is categorized as classic (severe), intermediate, or intermittent. Neonates with classic MSUD are born ...
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25.11.2014 · The focus is on testing genes responsible for monogenic disorders and on other emerging applications such as pharmacogenomic profiling. The ...
22.09.2020 · This cohort study evaluates the analytical and clinical validity of genome sequencing as a comprehensive diagnostic genetic test for ...