Birth Defects & Child Health

Genomics|Update|Current

Birth Defects & Child Health

Molecular testing for fragile x: analysis of 5062 tests from 1105 fragile X families-performed in 12 clinical laboratories in Spain 
Tejada MI, et al. Biomed Res Int 2014;2014:195793

Ten years on: Genetic screening for mitochondrial disease in Ireland 
O'Brien M, et al. Clin Neuropathol 2014 Jul-2014 Aug;33(4):279-83

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities 
Hoffman JD, et al. Prenat Diagn 2014 Jul

The burden of Duchenne muscular dystrophy: An international, cross-sectional study 
Landfeldt E, et al. Neurology 2014 Jul