Novel findings, mini‐review and dysmorphological characterization of 16p13.11 microduplication syndrome
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10188
Abstract: The short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, especially deletions and duplications, can be observed. Although deletions of this region are clinically well defined,… read more here.
Keywords: dysmorphological characterization; novel findings; findings mini; review dysmorphological ... See more keywords
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
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DOI: 10.1038/gim.2017.153
Abstract: PurposeThe objective of this study was to assess the ability of our laboratory’s exome-sequencing test to detect known and novel sequence variants and identify the critical factors influencing the interpretation of a clinical exome test.MethodsWe… read more here.
Keywords: interpretation; validation; novel findings; exome test ... See more keywords
Myasthenia Gravis: Novel Findings and Perspectives on Traditional to Regenerative Therapeutic Interventions.
Sign Up to like & getrecommendations! Published in 2022 at "Aging and disease"
DOI: 10.14336/ad.2022.1215
Abstract: The prevalence of myasthenia gravis (MG), an autoimmune disorder, is increasing among all subsets of the population leading to an elevated economic and social burden. The pathogenesis of MG is characterized by the synthesis of… read more here.
Keywords: perspectives traditional; gravis; novel findings; findings perspectives ... See more keywords