Can a small fish help identify possible treatments for an ultra-rare inherited disease found in an Alabama boy? The genetic ...

XMEA is a recessive, genetic disease that causes progressive muscle weakness. Can a small fish help identify possible ...

A new review sheds light on the complex molecular mechanisms behind Angelman syndrome (AS), a rare neurogenetic disorder, and ...

A young Chandler boy named Marco was recently diagnosed with beta-mannosidosis. It's an ultra-rare genetic disorder and there ...

Thanks to a global partnership among genetics researchers and the relentless organizing of parents, the five D.C.-area ...

The controversy over a specific definition of MetSyn has complicated both clinical and genetic studies, and raises the question of whether there is value in studying the syndrome as a specific ...

Parents of a toddler share their experience with Brugada syndrome after their son suffered sudden cardiac arrest, ...

You will be able to get a quick price and instant permission to reuse the content in many different ways. Marfan syndrome is a heritable disorder of the connective tissue with an estimated prevalence ...

15q11-q13 microduplication syndrome, a genetic disorder caused by duplications in the 15q11-q13 region, has been associated with autism spectrum disorder (ASD); however, research on chromosome 15 ...

An optimization step is then applied to the most influential parameters in order to find the best model fit to real cardiac data obtained from a patient suffering from Brugada syndrome and a healthy ...

Results In 20% of cases fetal alcohol syndrome was confirmed at the genetic consultation. The most common facial features were thin upper lip (86.6%) and short palpebral fissures (82%). A lip–philtrum ...

The patient underwent inpatient genetic assessment and genetic counseling and on the basis of a presumptive diagnosis of the long-QT syndrome an arrhythmia gene testing panel was sent that was ...