نتایج جستجو برای: jacobsen
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Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism...
We study the O(n) loop model on a dynamically triangulated disk, with a new type of boundary conditions, discovered recently by Jacobsen and Saleur. The partition function of the model is that of a gas of self and mutually avoiding loops covering the disk. The Jacobsen-Saleur (JS) boundary condition prescribes that the loops that do not touch the boundary have fugacity n ∈ [−2, 2], while the lo...
PURPOSE To discuss the ophthalmic findings and their clinical significance in 10 new cases of Jacobsen syndrome (mental retardation, craniofacial anomalies, congenital heart defects, and blood dyscrasias) and to review the ophthalmic findings in all previously reported cases in the literature. METHODS Ten new cases of Jacobsen syndrome were collected and studied prospectively for detection of...
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