Proceedings of the National Academy of Sciences

Insights into a rare genetic disease

Recently, a grassroots effort initiated by families and clinicians led to the discovery of a human genetic disorder with severe consequences that is linked to a mutation in the human NGLY1 gene. In a big ...

Jan 19, 2015
popularity not rated yet | comments 0

New genetic clues found in fragile X syndrome

Scientists have gained new insight into fragile X syndrome—the most common cause of inherited intellectual disability—by studying the case of a person without the disorder, but with two of its classic ...

Jan 16, 2015
popularity 5 / 5 (6) | comments 0

Study shows brain groove unique to humans

(Medical Xpress)—An international team of researchers has found via study that a groove in the brain, which they have named the "superior temporal asymmetrical pit" (STAP) appears to be unique to humans ...

Jan 13, 2015
popularity 4.7 / 5 (24) | comments 1 report