22q11.2 Deletion Syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder, arising chiefly from de novo non-homologous meiotic recombination events. This condition presents with a ...
Researchers are closer to solving the puzzle of a complex neurological condition called 15q13.3 microdeletion syndrome. Individuals with this condition are missing a small piece of chromosome 15 that ...
Researchers have found that mitochondrial dysfunction in the blood-brain barrier (BBB) may lead to neuropsychiatric disease in some patients with DiGeorge syndrome. Changes in brain connectivity ...
SALT LAKE CITY, April 16, 2024 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc., (NASDAQ: MYGN), a leader in genetic testing and precision medicine, today announced that Prenatal Diagnosis has published a ...
A recent study led by UC Davis Health researchers provides new insights into the molecular changes linked to the rare genetic condition 22q11.2 deletion syndrome, or 22q. It found unique biomarkers ...
Tokyo Medical and Dental University (TMDU) researchers have discovered that patients with 18q deletion syndrome can experience both cellular and humoral immunodeficiency Tokyo, Japan – Chromosome 18q ...
Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a ...
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