نتایج جستجو برای: prenatal ultrasonography
تعداد نتایج: 79755 فیلتر نتایج به سال:
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypop...
The most common lumbosacral mass of a fetus is a meningomyelocele that is not covered by skin; however, skin-covered lesions do occur, and they often have a quite different clinical cause and outcome. It is often difficult to make this differentiation on ultrasonography; when a skin-covered mass in the lumbosacral region is encountered, the following differential diagnoses should be considered....
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...
After decades of research, the influence of prenatal testosterone on brain lateralization is still elusive, whereas the influence of pubertal testosterone on functional brain lateralization has not been investigated, although there is increasing evidence that testosterone affects the brain in puberty. We performed a longitudinal study, investigating the relationship between prenatal testosteron...
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