نتایج جستجو برای: jacobsen
تعداد نتایج: 888 فیلتر نتایج به سال:
The thesis includes this 98-pages summary and appendices containing a paper submitted for journal publication Contents Our 1 contribution to the field of human-computer interaction (HCI) has been centered on evaluating aspects of two usability evaluation methods (UEMs), namely the cognitive walkthrough and the usability test. Chapter 1 in this summary is devoted to an introduction to HCI with p...
Jacobsen syndrome is a genetic disorder caused by partial deletion of the long arm of chromosome 11. Less than 300 cases have been reported, with some being diagnosed as late as the 4 decade of life. Clinical features include growth and psychomotor delay, characteristic facial anomalies involving the eyes, nose, mouth and ears, skull deformities, abnormal platelet function, congenital heart def...
OBJECTIVE To describe the prenatal phenotype of the 11q deletion syndrome (Jacobsen syndrome) and present the molecular characterization of the deletion in the case presented. CASE Ultrasound at 18 and 20 weeks of gestation, on a 34-year-old woman who presented for amniocentesis, revealed slow movements, oligohydramnios and dilatation of the cerebral ventricles in the fetus. Maternal and pate...
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