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crossworks.holycross.edu
| | digitalcommons.wustl.edu
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| | BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients. RESULTS: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic alterations, which overall explained 13.7% (10/73) o...
| | grbs.library.duke.edu
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| | ro.uow.edu.au
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| | Those who challenge conventional views or vested interests in science are likely to encounter difficulties. A scientific dissenter should first of all realize that science is a system of power as well as knowledge, in which interest groups play a key role and insiders have an extra advantage. Dissenters are likely to be ignored or dismissed. If they gain some recognition or outside support, they may be attacked. In the face of such obstacles, there are several strategies, including mimicking science, aim...
| | scholar.valpo.edu
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| A popular meme depict Galadriel and Frodo admitting that Sauron is "weirdly sexy," a humorous allusion to The Rings of Power's Halbrand. The show's controversial revelation of Halbrand as Sauron highlights the differences between Tolkien's construction of Second and Third Age Sauron as an attractive or admirable leader compared to Peter Jackson's portrayal of him as a monster or disembodied fiery eyeball. This, in turn, has implications for the geopolitical order of Middle-earth in which many people legi...