What does JS stand for?

Joubert Syndrome

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Samples in periodicals archive:

Gleeson, professor of neurosciences and pediatrics at UC San Diego and a Howard Hughes Medical Institute investigator, and his colleagues showed that when two copies of mutated INPP5E are present in an individual, the result is Joubert syndrome, a condition marked by mental retardation and impaired balance.

Scientists find link between gene mutations and ciliopathies

Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego and a Howard Hughes Medical Institute investigator, and his colleagues showed that when two copies of mutated INPP5E are present in an individual, the result is Joubert syndrome, a condition marked by mental retardation and impaired balance.

United States : Scientists discover link between mutations in INPP5E ...

Gary Leith, four - who has Joubert Syndrome - and sisters Julie, 13, and Amanda, 12, are in hospital after the accident at 2am on Saturday, shortly after they arrived from Greenock.

FAMILY ON DOLPHIN TRIP IN HORROR SMASH

Through the research we are doing, we have been able to contribute to the knowledge of this disorder by identifying the first two genes for Joubert syndrome.

Mouse model for X-linked congenital ataxia

Individuals with a rare inherited disorder called Joubert syndrome are clumsy when they walk or use their hands, and they have irregular breathing and eye movements.

Motor ways: gene mutation impairs muscle coordination

5-year-old girl who had developmental disabilities associated with a diagnosis of Joubert Syndrome.

Providing instruction from novel staff as an antecedent intervention ...

Chance also is investigating a disorder called hereditary neuralgic amyotrophy, which results in painful paralysis of the shoulders, and Joubert Syndrome, a rare malformation of the back of the brain causing mental retardation.

New UW division to target illnesses of nervous system

Bennett's Story: A Journey of Hope "When my son, Bennett, was born with Joubert Syndrome, we were told he would probably never walk or talk," reflects Hillary Key.

SOS Kids - Save Our Special Kids - Announces Rally at State Capitol