نتایج جستجو برای: سندرم ellis van creveld

تعداد نتایج: 79501  

Journal: :The Journal of chemical physics 2009
André K Kelkkanen Bengt I Lundqvist Jens K Nørskov

A recent extensive study has investigated how various exchange-correlation (XC) functionals treat hydrogen bonds in water hexamers and has shown traditional generalized gradient approximation and hybrid functionals used in density-functional (DF) theory to give the wrong dissociation-energy trend of low-lying isomers and van der Waals (vdW) dispersion forces to give key contributions to the dis...

Journal: :Journal of Pharmacy And Bioallied Sciences 2016

2012
ANTOINE JACQUIER

We study here the large-time behaviour of all continuous affine stochastic volatility models (in the sense of [15]) and deduce a closed-form formula for the large-maturity implied volatility smile. Based on refinements of the Gärtner-Ellis theorem on the real line, our proof reveals pathological behaviours of the asymptotic smile. In particular, we show that the condition assumed in [10] under ...

2014
Maurice Herlihy

! A Masters Project Report Authored by Marquita Ellis Supervised by Maurice Herlihy Conducted at Brown University Department of Computer Science October 2012 May 2013 !

2016
Honghao Zhang Nobuhiro Kamiya Takehito Tsuji Haruko Takeda Greg Scott Sudha Rajderkar Manas K Ray Yoshiyuki Mochida Benjamin Allen Veronique Lefebvre Irene H Hung David M Ornitz Tetsuo Kunieda Yuji Mishina

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...

2014
Leonardo Murgiano Vidhya Jagannathan Cinzia Benazzi Marilena Bolcato Barbara Brunetti Luisa Vera Muscatello Keren Dittmer Christian Piffer Arcangelo Gentile Cord Drögemüller

During the summer of 2013 seven Italian Tyrolean Grey calves were born with abnormally short limbs. Detailed clinical and pathological examination revealed similarities to chondrodysplastic dwarfism. Pedigree analysis showed a common founder, assuming autosomal monogenic recessive transmission of the defective allele. A positional cloning approach combining genome wide association and homozygos...

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