نتایج جستجو برای: van creveld syndrom
تعداد نتایج: 72306 فیلتر نتایج به سال:
Ellis Van Creveld syndrome or chondroectodermal dysplasia is a rare disease characterized by the triad of postaxial polydactyly, chondrodisplasia of long bones , resulting in acromesomelic dwarfism, and ectodermal dysplasia. In this study , three newborns with this syndrome , consisting of acromesomelic dwarfism , postaxial bilateral polydactyly , nail hypoplasia...
We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.
Volume dependence of the total energy and vibrational properties of crystalline l,3,5-trinitro-l,3,5-triazine (RDX) are calculated using the density functional theory (DFT). For this molecular crystal, properties calculated with a generalized gradient approximation to the exchange-correlation energy differ drastically from experimental values. This discrepancy arises from the inadequacy in trea...
Microarray-basedanalysis ofmicrobial functional diversityalongan oil contaminationgradient in oil¢eld Yuting Liang, Guanghe Li, Joy D. Van Nostrand, Zhili He, Liyou Wu, Ye Deng, Xu Zhang & Jizhong Zhou Jiangsu Polytechnic University, Jiangsu, China; Department of Environmental Science and Engineering, Tsinghua University, Beijing, China; Department of Botany and Microbiology, Institute for Envi...
Ignace Vergote, MD, PhD,* Eric Pujade-Lauraine, MD,* Sandro Pignata, MD,* Gunnar B. Kristensen, MD,* Jonathan Ledermann, MD,* Antonio Casado, MD,* Jalid Sehouli, MD,* Mansoor Mirza, MD,* Roldano Fossati, MD,* Christian Marth, MD,* Carine Creutzberg, MD,* Jose Del Campo, MD,* Nadeem Siddiqui, MD,* Paula Calvert, MD,* Aris Bamias, MD,* Gokhan Tulunay, MD,* Ate G.J. van der Zee, MD,* and Andreas d...
Spectroscopic insights into lead(II) coordination by the selective lead(II)-binding protein PbrR691.
Lead(II)-Binding Protein PbrR691 Peng R. Chen,† Erik C. Wasinger,‡ Jing Zhao,† Daniel van der Lelie,§ Lin X. Chen,*,‡ and Chuan He*,† Department of Chemistry, The UniVersity of Chicago, 5735 South Ellis AVenue, Chicago, Illinois 60637, Chemistry DiVision, Argonne National Laboratory, 9700 South Cass AVenue, Argonne, Illinois 60439, Biology Department, Building 463, BrookhaVen National Laborator...
Front cover photos by Kathy Galvin and Randy Boone, back cover art by Randy Boone, portrait on this page by Jim DeMartini. a See Appendix A for full titles and institutional associations of project personnel Dedication This report is dedicated to the memory of Dr. Jim Ellis (October 1938 to March 2002), the architect of the POLEYC project. Jim's vision of people, livestock, and wildlife existin...
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