Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period.

The bedside care provider may be the first to suspect that an infant has a syndrome. In addition to a sensitive and careful history and physical examination, systematic documentation of physical ...

Researchers evaluated the impact of recessive genetic variants on developmental disorders, proposing that reanalyzing genetic ...

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to ...

Study found that the contribution of recessive genetic variants to developmental disorders varies significantly across ethnic groups studied.

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

The largest and most diverse study on recessive genetic changes in developmental disorders reveals that over 80% of cases ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data ...

Researchers have carried out the most extensive and varied investigation to date regarding the role that recessive genetic ...

Scientists have conducted the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders1. They ...

What awards has Joseph Joubert been nominated for? Joseph Joubert has been nominated for the following awards: Outstanding Orchestrations at the Outer Critics Circle Awards for Carmen Jones ...