Málstofa: Genetics and diseases

FAM118A a candidate gene for a new syndrome of mild developmental delay, distal arthrogryposis, exostosis of manubrium sterni, missing adult teeth, and amblyopia

Prevalence of myotonic dystrophy type 1 in Iceland is three times the world average with 77% of cases identified through indirect family-mediated cascade testing

A mechanistic hypothesis explaining the occurrence of two distinct phenotypes from the CREBBP/EP300 genes

The predictive value of a polygenic risk score for heart failure in the AGES cohort

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