Birth Defects & Child Health

Genomics|Update|Current

Birth Defects & Child Health

Clinical utility gene card for: Angelman syndrome
Buiting K, et al. European Journal of Human Genetics2014 Jun 4

Genome sequencing identifies major causes of severe intellectual disability
Gilissen C, et al. Nature 2014 Jun 4

Nutrition management guideline for maple syrup urine disease: An evidence- and consensus-based approach 
Frazier DM, et al. Mol Genet Metab 2014 May

Sharp rise in rare chromosomal disorders diagnosis rate, PHG Foundation, Jun 2