نتایج جستجو برای: genetic defect
تعداد نتایج: 700108 فیلتر نتایج به سال:
Two sisters with Ehlers-Danlos syndrome, inherited as an autosomal recessive trait, and congenital heart disease are herein reported. One was a 20-year-old woman with Ehlers-Danlos syndrome and multiple aphthous stomatitis, bronchial asthma, an emphysematous lung, a ventricular septal defect and a bilateral inguinal hernia due to hyperextensibility and joint hypermobility. The other was a 17-ye...
hypospadias is an uncommon congenital defect of urinary tract in farm animals. this defect has been recorded rarely in calves, lambs and foals in the world. the aetiology of hypospadias is not well understood, it seems to be multifactorial and may be related to genetic, endocrinological, and environmental factors. during april to october 2007, twenty-four goat kids with sings of hypospadias wer...
In the past conventional wisdom held that stroke and other forms of cardiovascular disease were due primarily to environmental factors and that genetic background played a relatively minor role in disease pathogenesis. However, recent discoveries in the fields of molecular and population genetics have suggested the need to reexamine the role of genetic factors in the pathogenesis of vascular di...
With the continuous development of Internet technology, role software in life is increasing, and defect prediction (SDP) a key means to ensure reliability. SDP predict modules that may have defects advance based on historical data projects, its purpose maximize use testing resources. However, actual process, project needs be predicted often new for which there little or no data. Therefore, how ...
There have been major advances in the past few years in our understanding of the X-linked learning disabilities. The most common of these is the fragile-X syndrome, but the number of other gene defects that are now recognised to be linked with learning disability is increasing year on year. We describe one family displaying a family displaying a rare X-linked abnormality. Repeat genetic testing...
We report a 9-year-old boy with history of Angelman syndrome (AS) associated epilepsy, behavioral issues, intellectual disability, and sleep disturbance. Genetic testing revealed methylation imprinting defect, thereby confirming the diagnosis AS. His seizures were well-controlled on monotherapy clobazam he underwent routine EEG (figure), which showed notched delta pattern.
Severe pulmonary arterial hypertension (PAH) rarely develops in children with an atrial septal defect (ASD), even those with a large defect. We herein report the case of a 27-year-old man with a moderate-sized secundum ASD and right ventricular failure due to severe PAH, which developed in his early teens. He was diagnosed as having a genetic mutation of the bone morphogenetic protein receptor-...
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