Could diagnosing rare genetic disorders one day be as simple as snapping a picture with a smartphone? That’s what a new study suggests. Researchers with the National Institutes of Health’s National ...
A team of researchers led by Professor Yoko Hamazaki and Assistant Professor Yann Pretemer (Department of Life Science Frontiers) has developed an in vitro model that faithfully recapitulates human ...
Researchers have found that mitochondrial dysfunction in the blood-brain barrier (BBB) may lead to neuropsychiatric disease in some patients with DiGeorge syndrome. Researchers have identified a ...
The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain. Genes provide the blueprint for construction, but ...
1p36 deletion syndrome is one of the most common subtelomeric microdeletion disorders, occurring in approximately 1 in 5,000 to 10,000 live births. This chromosomal abnormality results in a broad ...
The human brain begins to assemble itself shortly after conception as a growing number of brain cells connect to create circuits across the brain. Genes provide the blueprint for construction, but ...
PLYMOUTH MEETING, Pa., Dec. 5, 2023 /PRNewswire/ -- Harmony Biosciences Holdings, Inc. ("Harmony" or the "Company") (Nasdaq: HRMY), a pharmaceutical company dedicated to developing and commercializing ...
ROANOKE, Va. (WDBJ) - New research has identified a way to possibly disrupt a genetic syndrome and prevent autism and schizophrenia in its patients. Dr. Anthony-Samuel LaMantia is a professor at the ...
Richard DiGeorge and Jo Kaur, founders of Riaan Research Initiative, with their son Riaan who was diagnosed with Cockayne syndrome in 2021. PHOTO I COURTESY OF UMASS CHAN MEDICAL SCHOOL A New York ...
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