نتایج جستجو برای: specific phenotype
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Barrett’s esophagus (or columnar epithelium lined lower esophagus (CELLO) or “endobrachyoesophage” in French) is an acquired condition in which the squamous epithelium of the lower esophagus is replaced by a metaplastic glandular epithelium (1). Barrett’s esophagus represents an abnormal healing of esophageal ulceration usually secondary to severe gastroesophageal reflux disease. Although the c...
During the terminal stage of skeletal myogenesis, myoblasts stop replicating, fuse to form multinucleate fibers, and express the genes that encode the proteins that convey contractile capacity. Because of this dramatic shift in proliferative state, morphology, and gene expression, it has been possible to readily identify and quantitate terminally differentiating myoblasts. In contrast, it is no...
Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...
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