نتایج جستجو برای: duane
تعداد نتایج: 967 فیلتر نتایج به سال:
ISSN 1598-6535 © The Korean Society for Laboratory Medicine. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Korean J Lab Med 2011;31:307 ht...
Interstitial duplications of 8q12 encompassing CHD7 have recently been described as a new microduplication syndrome. Three 8q12 duplications have been reported with shared recognizable phenotype: Duane anomaly, developmental delay and dysmorphic facial features. We identified a 2.7 Mb duplication on chromosome 8q12 with SNP-array in a patient with growth delay, congenital heart defects, ear ano...
Seth T. Walk, Dejan Micic, Ruchika Jain, Eugene S. Lo, Itishree Trivedi, Eugene W. Liu, Luay M. Almassalha, Sarah A. Ewing, Cathrin Ring, Andrzej T. Galecki, Mary A. M. Rogers, Laraine Washer, Duane W. Newton, Preeti N. Malani, Vincent B. Young, and David M. Aronoff Department of Internal Medicine, Division of Infectious Diseases, Division of Geriatric and Palliative Medicine, Department of Bio...
Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to vis...
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