Genomic DNA pooling strategy for next-generation sequencing-based rare variant discovery in abdominal aortic aneurysm regions of interest-challenges and limitationsIncomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosusApplication of exome sequencing in the search for genetic causes of rare disorders of copper metabolismMultiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencingAgRP and NPY expression in the human hypothalamic infundibular nucleus correlate with body mass index. Whereas changes in alpha-MSH are related to type 2 diabetes.Dominant missense mutations in ABCC9 cause Cantu syndromeX-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face
author
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M. Harakalova
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Harakalova