Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders ...

This month, I’d like to discuss the options that are available when an individual has clinical features of any of the three types of NF but genetic testing is negative. Next-generation sequencing (NGS ...

Alzheimer’s disease (AD) is clinically characterized by a progressive sequence of symptoms and signs that usually begins with subtle memory and cognitive changes and culminates in profound functional ...

Clinical implications of next-generation sequencing on pediatric solid tumors. This is an ASCO Meeting Abstract from the 2022 ASCO Annual Meeting I. This abstract does not include a full text ...

Asymptomatic hyperuricemia Acute/intermittent gout Advanced gout (or what used to be called chronic tophaceous gout). The rate of progression from asymptomatic hyperuricemia to advanced gout varies ...

Study of single live circulating tumor cells capture and their genomic profile and enriched mutations of PIK3CA and HRR pathway in patients with breast cancer.

Women were generally excluded from clinical trials until the 1990s; in 1993, the NIH inclusion policy was codified into ...