Deep intronic FGF14 repeat expansion associated with late-onset cerebella ataxia
1. A dominant deep-intron GAA repeat expansion in the FGF14 gene was found among French Canadian patients with late-onset cerebellar ...
1. A dominant deep-intron GAA repeat expansion in the FGF14 gene was found among French Canadian patients with late-onset cerebellar ...
1. Some CHEK2 alleles were shown to have a high-risk association of breast cancer compared to other alleles that were ...
1. This prospective cohort study found that consuming two or more cups of tea daily was associated with moderately reduced ...
1. Rare mutations in CIDEB are associated with a decreased risk of developing liver cirrhosis. 2. Further, rare mutations in ...
1. Patients with the ACKR1 variant (CC genotype) had an elevated risk of azathioprine discontinuation attributed to hematopoietic toxicity. 2. ...
1. In a randomized controlled trial of about 350 infants with suspected genetic diseases in intensive care units, the use ...
1. In a randomized controlled trial of about 350 infants with suspected genetic diseases in intensive care units, the use ...
1. Higher frequencies of malignant ventricular arrhythmia and end-stage heart failure were found among individuals carrying truncating variants of the ...
1. 30% of the population suffers from reflex syncope, a major cause of transient loss of consciousness. Understanding genetic basis ...
1. The association between major birth defects and cancer risk was present in children, adolescents, and adults, although the risk ...
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