New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, ...

Jim FessendenUMass Chan Medical SchoolNew research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome ...

Joubert syndrome is a rare disorder characterized by hyperpnea, a subtle facial appearance, and associated eye abnormalities that are seen in the newborn period. Learn how to detect this condition.

Joubert syndrome is a rare autosomal recessive disorder of the cerebellum that occurs in 1 of 100,000 live births. [3,4,5,6,7,8] It was first described in 1969 by Marie Joubert and colleagues, who ...

The Joubert Syndrome Foundation was founded in 1992 by the mother of a child with Joubert syndrome. This foundation has an advisory board of parents and medical professionals.

At just two years old, Emory Crosdale was diagnosed with joubert syndrome, a rare disease that affects how the brain develops ...

The Joubert Syndrome Foundation was founded in 1992 by the mother of a child with Joubert syndrome. This foundation has an advisory board of parents and medical professionals. They have a registry of ...

New research by Sumeda Nandadasa, Ph.D., reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, Joubert syndrome and other ciliopathies is cut in half to perform two ...

A new specialty center opened Tuesday at the Hospital of the University of Pennsylvania in Philadelphia. It's one of the first in the country to help children and adults with Williams syndrome, a ...

Happy Heart Syndrome, a rare condition, mirrors broken heart syndrome but is triggered by intense joy. Overwhelming happiness floods the body with adr. Sign In. TOI. Go to TOI. Etimes. home.