Joubert syndrome is a rare genetic condition that causes underdevelopment in a part of the brain called the cerebellar vermis and malformation of the brainstem. The cerebellar vermis coordinates ...
A life-threatening kidney disease may be one day be a treatable condition thanks to work by researchers at Newcastle University, and patients with the illness - Joubert syndrome. For the first time, ...
Classic Joubert syndrome is characterized by distinctive cerebellar and brain stem malformation called the “molar tooth sign,” hypotonia, and developmental delays. The designation “Joubert syndrome ...
Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, ...
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. This ...
Four-year-old Oliver McDonald can be sensitive to loud sounds and has trouble getting around. His parents got him a Power Wheels car for him to use this summer, but his little sister likes it better, ...
Gene For Joubert Syndrome With Excessive Brain Folds Discovered By UCSD Researchers And Harvard Team
Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the ...
An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of ...
An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of ...
An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of ...
Nearly all mammalian cells contain cilia – microscopic hair-like structures that extend from the surface of cells. They can be up to 10 micrometers in length and up to 1 micrometer wide. Motile cilia ...
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination. Most cases of ...
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