IntroductionHave you ever encountered the diagnosis of "Klinefelter syndrome" in a medical or nursing setting and found ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay ...

A major analysis suggests Phelan-McDermid syndrome, a genetic disorder closely linked to autism, may affect about 1 in 7,300 ...

A new review explores how advances in understanding X chromosome inactivation (XCI) are creating potential therapeutic opportunities for a range of X-linked genetic disorders, including Rett syndrome, ...

A new review explores how advances in understanding X chromosome inactivation (XCI) are creating potential therapeutic opportunities for a range of X-linked genetic disorders, including Rett syndrome, ...

“I just want people to see Luca as a little boy first,” Mariah George tells PEOPLE. “His diagnosis is a part of his story, ...

Helix, the leading enterprise genomics platform, today announced the availability of Whole Exome+® Sequencing (WES+), a comprehensive diagnostic sequencing test now available to ordering providers ...

For decades, the scientific consensus has maintained that the primary drivers of health disparities between men and women are ...

I teach a university course called Hormones and Behaviour. What surprises students is that biological sex is not produced by a single switch. What surprises me is that many students have never been ...