Genetic background has an effect on the metabolism of the essential polyunsaturated fatty acids alpha-linolenic acid and linoleic acid, a recent study from the University of Eastern Finland shows.
Nov 18, 2022
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For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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Researchers make a compelling, evidence-based case for expanding the diagnostic workup to include cardiac arrhythmias when a normally continent individual experiences enuresis nocturna (involuntary urination during sleep). ...
Apr 7, 2022
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Researchers from Karolinska Institutet have analyzed blood and sperm samples from healthy parents to children with genetic syndromes and the results indicate that germline mosaicism is underestimated as a cause to syndromes ...
Feb 17, 2022
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Obesity is associated with an increased risk of developing female reproductive disorders, however, the roles and mechanisms of obesity in the cause(s) of reproductive conditions are unclear. A study publishing February 1st ...
Feb 1, 2022
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January is Thyroid Awareness Month, which makes this a good time to learn about thyroid cancer risk factors.
Jan 26, 2022
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Gene therapy might soon offer a new option for children with a rare genetic disorder that damages tissues throughout the body, researchers are reporting.
Nov 18, 2021
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Using data generated from patients and mice with genetic mutation for the disorder Usher syndrome, researchers from the University of Maryland School of Medicine (UMSOM), the National Institutes of Health's National Eye Institute ...
Nov 9, 2021
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Children with Down syndrome have a lower chance of survival from a particular high-risk form of leukemia (ALL) than children without the disability, new research shows. Researcher Naomi Michels in the Den Boer group: "We ...
Sep 22, 2021
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With an average accuracy of 88%, a deep learning technology offers rapid genetic screening that could accelerate the diagnosis of genetic syndromes, recommending further investigation or referral to a specialist in seconds, ...
Sep 1, 2021
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