Now showing items 1-2 of 2
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
BACKGROUND: Whole-exome sequencing (WES) has been successful in identifying genes that cause familial Parkinson's disease (PD). However, until now this approach has not been deployed to study large cohorts of unrelated ...
Social, educational and vocational outcomes in patients with childhood-onset and young-adult-onset growth hormone deficiency.
OBJECTIVE: Hypopituitarism diagnosed in childhood, adolescence and young adulthood has the potential to affect growth and somatic development. Less is known about the impact of such a diagnosis on other aspects of development. ...