December 2015
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151 Reads
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December 2015
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151 Reads
October 2015
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48 Reads
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8 Citations
European Journal of Human Genetics
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
October 2015
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237 Reads
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31 Citations
European Journal of Human Genetics
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
February 2014
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24 Reads
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8 Citations
European Journal of Human Genetics
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
January 2013
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50 Reads
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17 Citations
European Journal of Human Genetics
The European Journal of Human Genetics is the official Journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports, News and Commentary articles and reviews in the rapidly expanding field of human genetics and genomics.
... As previous studies shown, α-smooth muscle actin (α-SMA), smooth muscle protein-22α (SM22α), calponin, and myosin heavy chain 11 (MYH11) are specific markers of contractile vascular SMCs. Although there are many hypotheses about the pathogenesis of AD, the exact cause is still unclear [8]. ...
October 2015
European Journal of Human Genetics
... In light of all this evidence, new information on genetic variants may affect the clinical management of patients who have had genetic testing in the past. Although there is currently no consensus as to when and how often variants should be reclassified, 40 variant reclassification in previously published cohorts and work with curators of variant databases to update the information for the erroneously classified variants has become an important task in modern genetics. Moreover, when using information about previously published variants associated with a condition for variant classification (e.g., to determine mutational hotspots or variants affecting the same codon), their pathogenicity should also be evaluated critically. ...
October 2015
European Journal of Human Genetics
... genecards.org) [22] and Comparative Toxicogenomics Database (http://ctdbase.org/, CTD) [23] was used to obtain allergic asthma-related targets. ...
February 2014
European Journal of Human Genetics
... A formal assessment was defined as a systematic and standardized process using health Gene Cards (15,16) and the similar National Center for Biotechnology Information GeneReviews were excluded as their focus is on guiding individual clinician decision-making (15,17,18). Omics tests encompass genomics, transcriptomics, proteomics, and metabolomics. ...
January 2013
European Journal of Human Genetics