Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
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چکیده
منابع مشابه
interpersonal function of language in subtitling
translation as a comunicative process is always said to be associated with various aspects of meaning loss or gain. subtitling as a mode of translating, due to special discoursal and textual conditions imposed upon it, is believed to be an obvious case of this loss or gain. presenting the spoken sound track of a film in writing and synchronizing the perception of this text by the viewers with...
15 صفحه اولLoss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans.
Elevated plasma concentrations of HDL cholesterol (HDL-C) are associated with protection from atherosclerotic cardiovascular disease. Animal models indicate that decreased expression of endothelial lipase (LIPG) is inversely associated with HDL-C levels, and genome-wide association studies have identified LIPG variants as being associated with HDL-C levels in humans. We hypothesized that loss-o...
متن کاملTead1 is required for maintaining adult cardiomyocyte function, and its loss results in lethal dilated cardiomyopathy.
Heart disease remains the leading cause of death worldwide, highlighting a pressing need to identify novel regulators of cardiomyocyte (CM) function that could be therapeutically targeted. The mammalian Hippo/Tead pathway is critical in embryonic cardiac development and perinatal CM proliferation. However, the requirement of Tead1, the transcriptional effector of this pathway, in the adult hear...
متن کاملa fundamental study of "histiriographic metafiction", and "literary genres", as introduced in "new historical philosophy", and tracing them in the works of julian barnes.
abstract a fundamental study of “historio-graphic metafiction” and “literary genres”, as introduced in “new historical philosophy”, and tracing them in the works of julian barnes having studied the two novels, the porcupine and arthur & george, by julian barnes, the researcher has applied linda hutcheon’s historio-graphic metafictional theories to them. the thesis is divided into five cha...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2021
ISSN: 1018-4813,1476-5438
DOI: 10.1038/s41431-021-00843-8