"disorder" in inglés with examples - Collocation dictionary inglés
- Therefore, medical uses of PGD for selection of a female offspring to prevent the transmission of X-linked Mendelian recessive disorders are often applied.
- Also, genetic analyses of genes known to cause some simple Mendelian disorders have proven negative for collections of patients with IA [ 16 17 ] .
- The result was the identification of the faulty DNA in over a dozen Mendelian disorders in 2010.
- GeneDx currently performs testing for more than 200 rare Mendelian disorders using DNA sequencing and deletion/duplication analysis of the associated gene(s).
- For highly penetrant Mendelian genetic disorders such as Huntington's disease virtually all the incidence of the disease is due to genetic differences.
- Mendelian disorders known to be associated with an increased risk of stroke include hemoglobinopathies, dyslipoproteinemias, and cardioembolic disorders [ 5 ] .
- The number of common Mendelian disorders found among Romanies from all over Europe indicates "a common origin and founder effect".
- There are many benefits to exome sequencing in the detection of rare causal variants of Mendelian disorders as opposed to whole genome sequencing or traditional linkage studies:
- The majority of genetic variants that underlie mendelian disorders disrupt protein-coding sequences.
- This was the first reported study that used exome sequencing as an approach to identify an unknown causal gene for a rare mendelian disorder.
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