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Article
Open AccessZebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Rare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these inve...
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Article
Open AccessStochastic gene expression and environmental stressors trigger variable somite segmentation phenotypes
Mutations of several genes cause incomplete penetrance and variable expressivity of phenotypes, which are usually attributed to modifier genes or gene-environment interactions. Here, we show stochastic gene ex...
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Article
Pairing of segmentation clock genes drives robust pattern formation
Gene expression is an inherently stochastic process1,2; however, organismal development and homeostasis require cells to coordinate the spatiotemporal expression of large sets of genes. In metazoans, pairs of co-...
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Article
Laryngeal electromyographic changes in postthyroidectomy patients with normal vocal cord mobility
Thyroidectomy has been used for the treatment of thyroid disease for more than 100 years. In spite of the advancement of surgical techniques, there is still a risk of laryngeal nerve injury. The risk of partia...