نتایج جستجو برای: ectrodactyly

تعداد نتایج: 300  

Journal: :Human molecular genetics 2014
Omri Schatz Erez Langer Nissim Ben-Arie

Distal limb deformities are congenital malformations with phenotypic variability, genetic heterogeneity and complex inheritance. Among these, split-hand/foot malformation is an ectrodactyly with missing central fingers, yielding a lobster claw-like hand, which when combined with long-bone deficiency is defined as split-hand/foot malformation and long-bone deficiency (SHFLD) that is genetically ...

Journal: :Development 2008
Nadia Lo Iacono Stefano Mantero Anna Chiarelli Elvin Garcia Alea A Mills Maria I Morasso Antonio Costanzo Giovanni Levi Luisa Guerrini Giorgio R Merlo

The congenital malformation Split Hand-Foot Malformation (SHFM, or ectrodactyly) is characterized by a medial cleft of hands and feet, and missing central fingers. Five genetically distinct forms are known in humans; the most common (type-I) is linked to deletions of DSS1 and the distalless-related homeogenes DLX5 and DLX6. As Dlx5;Dlx6 double-knockout mice show a SHFM-like phenotype, the human...

2005
Bong H. Lian

For a smooth manifold equipped with a compact Lie group action, we construct an equivariant cohomology theory which takes values in a vertex algebra, and contains the classical equivariant cohomology as a subalgebra. The main idea is to synthesize the algebraic approach to the classical equivariant cohomology theory due to H. Cartan, with the chiral de Rham algebra of Malikov-Schechtman-Vaintro...

2000

The study has been performed by the Performance Review Unit with the assistance of the EEC at Brétigny. The subject of this study is to develop a framework for the cost benchmarking of the European en-route Air Navigation Services (ANS). This document has been collated by mechanical means. Should there be missing pages, please report to: EUROCONTROL Experimental Centre Publications Office Centr...

2008
Gino Isidori

We review the Standard Model predictions of CP violation in kaon decays. We present an elementary introduction to Chiral Perturbation Theory, four–quark effective hamiltonians and the relation among them. Particular attention is devoted to K → 3π, K → 2πγ and K → πf̄f decays. To appear in International Journal of Modern Physics A ∗ Work supported in part by HCM, EEC–Contract No. CHRX–CT920026 (E...

2015
Huarong Yu Heng Liang Fangshu Qu Zheng-shuang Han Senlin Shao Haiqing Chang Guibai Li

Parallel factor (PARAFAC) analysis enables a quantitative analysis of excitation-emission matrix (EEM). The impact of a spectral variability stemmed from a diverse dataset on the representativeness of the PARAFAC model needs to be examined. In this study, samples from a river, effluent of a wastewater treatment plant, and algae secretion were collected and subjected to PARAFAC analysis. PARAFAC...

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