Birth Defects & Child Health

Genomics|Update|Current

Birth Defects & Child Health

Clinical utility gene card for: Dyskeratosis congenita 
Dokal I, et al. Eur J Hum Genet 2014 Sep

Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement 
Claverie-Martin F, et al. Eur J Hum Genet 2014 Sep

Clinical utility gene card for: Lowe syndrome 
Bokenkamp A, et al. Eur J Hum Genet 2014 Sep

Lack of harmonization in sweat testing for cystic fibrosis - a national survey 
Christiansen AL & Nybo M Scand J Clin Lab Invest 2014 Sep:1-5

Management of sickle cell disease: Summary of the 2014 evidence-based report by expert panel members 
Yawn BP, et al. JAMA 2014 Sep;312(10):1033-48

Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia 
Kusters DM, et al. JAMA 2014 Sep;312(10):1055-7