(Medical Xpress)—A large team of researchers based in the Netherlands has found that whole genome sequencing can be used to identify a large percentage of patients who have a severe intellectual disability (SID). In their ...
(Medical Xpress)—Getting an MRI can be an uncomfortable experience, particularly for a 40-minute or longer scan. In the US at least, it is also quite expensive—the same kind of scan costing just over $100 in France, for ...
Researchers from Children's Hospital of Philadelphia (CHOP) recently discovered that extremely thorough "deep sequencing" of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular ...
Jun 1, 2023
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BGI-Research and the Maternal and Child Health Hospital of Hubei Province (MCHH) have published whole-genome sequencing research results in npj Genomic Medicine. These results have revealed the genomic architecture of fetal ...
Nov 8, 2022
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In a new proof-of-concept study led by Dr. Mark Walker at the uOttawa Faculty of Medicine, researchers are pioneering the use of a unique AI-based deep learning model as an assistive tool for the rapid and accurate reading ...
Jul 14, 2022
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Children with a genetic disorder called 22q11.2 deletion syndrome, who frequently are believed to also have autism, often may be misidentified because the social impairments associated with their developmental delay may mimic ...
Sep 18, 2013
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(Medical Xpress)—Children with autism have increased levels of genetic change in regions of the genome prone to DNA rearrangements, so called "hotspots," according to a research discovery to be published in the print edition ...
Apr 3, 2013
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After an intensive three-year hunt through the genome, medical researchers have pinpointed mutations that leads to drug resistance and relapse in the most common type of childhood cancer—the first time anyone has linked ...
Feb 3, 2013
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Mutations in single genes can cause catastrophic diseases, such as Huntington's Disease or sickle cell anemia. However, many conditions, including cancer, diabetes and birth defects are multigenic, arising from the collective ...
Jan 31, 2013
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Scientists of the Department of Animal Biology of the University of Malaga have discovered the cellular mechanism that originates coronary arterio-ventricular fistulae, a congenital anomaly that, in severe cases, may result ...
Mar 30, 2023
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