Congenital stationary night blindness (CSNB) is caused by mutations in a specific calcium channel. A comprehensive proteomic ...
The National Comprehensive Cancer Network’s newly updated non-small cell lung cancer guideline adds sevabertinib as a treatment option for some patients with advanced disease, makes datopotamab ...
When the TREX1 gene is functioning normally, it produces a protein that helps maintain DNA in cells throughout the body. Mutations in the TREX1 gene are known to cause a rare and serious disease ...
Researchers in Class of 1942 Professor of Chemistry Matthew D. Shoulders' lab have uncovered a sinister hidden mechanism that ...
Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...
The illustration of protein structure (domains) on the left side, and corresponding exons in the FLT3 gene are displayed on the right side. FMS-like tyrosine kinase 3 (FLT3) mutations represent some ...
Hydrocephalus is a life-threatening condition that occurs in about 1 in 1,000 newborns and is often treated with invasive ...
UCLA Health researchers have created a comprehensive map showing how eight different genetic mutations associated with autism ...
This transcript has been edited for clarity. For more episodes, download the Medscape app or subscribe to the podcast on Apple Podcasts, Spotify, or your preferred podcast provider. As a ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results