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9.337  Articles
1 of 935 pages  |  10  records  |  more records»
Congenital adrenal hyperplasia is an autosomal recessive genetic disorder that results in deficiency of enzymes required for steroidogenesis in the cortex of the adrenal glands. The incidence of CAH is rare and it can occur in both males and females. Gene... see more

Background and Objectives: In Pakistan, there is high incidence of congenital and hereditary anomalies (CA) which are a leading cause of infant mortality and morbidity. In order to elucidate the burden and biodemographic correlates of CA, this study was a... see more

Voice, speech and swallowing disorders are not uncommon. Professional voice users, children and adults with congenital anomalies or neurological disorders, and patients after treatment of head and neck cancer are affected the most by these problems. Phoni... see more

Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods. The analysi... see more

Summary. Reproductive health is a priority in today’s global health care system. Among the factors of reproductive health disorders are female genital tract malformations. This pathology is mostly diagnosed with the onset of reproductive disorders at diff... see more

Congenital hypothyroidism is a condition resulting from a deficiency of thyroid hormone in newborns. Congenital hypothyroidism has no specific signs and symptoms at birth. It may lead to severe mental retardation and growth, and developmental disorders. T... see more

Congenital malformations are pathology with a multifactorial etiology. Among their many endogenous, exogenous factors and hereditary predisposition are important. In particular a decrease in follicular enzymes (MTHFR, MTR, MTRR) activity at the genetic le... see more

Introduction: The corpus callosum is the largest structure of the nerve fibers of the brain. Its main function is to coordinate the transfer of information between the right and left hemispheres of the brain. Agnesis of the corpus callosum is one of the m... see more

Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods. The analysis of the r... see more

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