Genetic discovery helps explain Irish giant folklore
Scientists at the University of Exeter Medical School were part of genetics research which could help explain the legend of giants in Irish folklore.
Oct 17, 2016
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152
Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
Scientists at the University of Exeter Medical School were part of genetics research which could help explain the legend of giants in Irish folklore.
Oct 17, 2016
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152
Researchers have made a breakthrough genetic discovery into the cause of a spectrum of severe neurological conditions.
Oct 8, 2020
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153
Less than a year after publishing research identifying a single genetic mutation that caused multiple sclerosis (MS) in two Canadian families, scientists at the University of British Columbia have found a combination of two ...
Apr 17, 2017
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83
A research team led by an award-winning genomicist at Western University has developed a new method for identifying mutations and prioritizing variants in breast and ovarian cancer genes, which will not only reduce the number ...
Apr 28, 2016
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41
For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers ...
Mar 12, 2019
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Vanderbilt pharmacologists have reported the first evidence that aberrant spontaneous release of neurotransmitters in the brain can cause a range of severe intellectual and neurodevelopmental disorders in infants and children.
Nov 4, 2020
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37
Following a nearly 25-year search across three continents, parents of a pair of sisters—who as children slowly became paralyzed from the waist down—finally have a diagnosis, according to researchers at University of Southern ...
Nov 15, 2019
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8
A mutation in a gene crucial to normal heart development could play a role in some types of congenital heart disease—the most common birth defect in the U.S. The finding, from a team in The Research Institute at Nationwide ...
Jul 29, 2013
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An international, multidisciplinary research team from more than 50 institutions, led by geneticist and psychiatrist Gholson Lyon, MD, Ph.D., of the New York State Office for People With Developmental Disabilities' (OPWDD) ...
Nov 21, 2019
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1
Researchers led by a team at Baylor College of Medicine have identified a novel neurodevelopmental disorder associated with mutations or deletions affecting a gene called PAX5. Their findings are published in the journal ...
Jan 31, 2022
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31