نتایج جستجو برای: ellis van creveld syndrome
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Ellis-van Creveld (EvC) syndrome is a skeletal dysplasia, characterized by short limbs, postaxial polydactyly, and dental abnormalities. EvC syndrome is also categorized as a ciliopathy because of ciliary localization of proteins encoded by the two causative genes, EVC and EVC2 (aka LIMBIN). While recent studies demonstrated important roles for EVC/EVC2 in Hedgehog signaling, there is still lit...
Cor triloculare biventriculare is a rare congenital malformation of the heart in which there is a complete absence of the atrial septum. It is usually associated with other anomalies like complete atrioventricular canal defect, polysplenic syndrome, isolated dextrocardia, Ellis-van Creveld syndrome, or persistent left superior vena cava. We report a case of a stillborn male foetus of 35 weeks g...
We study the role of electronic structure (band gaps) and long-range van der Waals (vdW) interactions on the stability and mobility of point defects in silicon and heavier semiconductors. Density functional theory calculations with hybrid functionals that contain part of the Hartree-Fock exchange energy are essential to achieve a reasonable description of defect electronic levels, leading to ac...
We empirically analyze the welfare effects of cross-firm bundling in the pharmaceutical industry. Physicians often treat patients with "cocktail" regimens that combine two or more drugs. Firms cannot price discriminate because each drug is produced by a different firm and a physician creates the bundle in her office from the component drugs. We show that a less competitive equilibrium arises wi...
The Bonhöffer-van der Pol (BvdP) equation is considered as an important model for studying dynamics in a single neuron. In this paper, we investigate bifurcations of periodic solutions in model equations of four and five BvdP neurons coupled through the characteristics of synaptic transmissions with a time delay. The model can be considered as a dynamical system whose solution includes jumps de...
The Medical Journal of Australia, Sydney, NSW. Ruth M Armstrong, BMed, Deputy Editor; Helen M Randall, BSc, DipOT, Senior Assistant Editor; Martin B Van Der Weyden, MD, FRACP, FRCPA, Editor. Reprints will not be available from the authors. Correspondence: Dr Ruth M Armstrong, The Medical Journal of Australia, Locked Bag 3030, Strawberry Hills, NSW 2012. [email protected] The Medical Journal...
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