Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24436
Abstract: Arrhythmogenic cardiomyopathy with right dominant form (ACR) is a rare heritable cardiac cardiomyopathy disorder associated with sudden cardiac death. Pathogenic variants (PVs) in desmosomal genes have been causally related to ACR in 40% of cases.… read more here.
Keywords: dominant form; diagnosis; arrhythmogenic cardiomyopathy; associated genes ... See more keywords
Anatomical variations of the torcular Herophili: macroscopic study and clinical aspects
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DOI: 10.1007/s12565-018-0436-z
Abstract: The anatomical variations of the confluence of sinuses were examined, focusing on the continuity of the superior sagittal sinus (SSS) and the transverse sinuses (TSs). In the 142 specimens studied, there were 72 symmetric cases… read more here.
Keywords: type categorized; left dominant; dominant type; right dominant ... See more keywords
Phonetically Grounded Structural Bias in Learning Tonal Alternations
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DOI: 10.3389/fpsyg.2021.705766
Abstract: This study investigates the hypothesis that tone alternation directionality becomes a basis of structural bias for tone alternation learning, where “structural bias” refers to a tendency to prefer uni-directional tone deletions to bi-directional ones. Two… read more here.
Keywords: phonetically grounded; uni directional; structural bias; tone ... See more keywords