Search results for "Normal"

Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect

2019

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…

Pan-cancer analysis of whole genomes

2020

Publisher's version (útgefin grein)

A new method for computing one-loop integrals

1994

We present a new program package for calculating one-loop Feynman integrals, based on a new method avoiding Feynman parametrization and the contraction due to Passarino and Veltman. The package is calculating one-, two- and three-point functions both algebraically and numerically to all tensor cases. This program is written as a package for Maple. An additional Mathematica version is planned later.

On Mardia's tests of multinormality

2004

Why the Cosmological Constant Seems to Hardly Care About Quantum Vacuum Fluctuations: Surprises From Background Independent Coarse Graining

2020

International audience; Background Independence is a sine qua non for every satisfactory theory of Quantum Gravity. In particular if one tries to establish a corresponding notion of Wilsonian renormalization, or coarse graining, it presents a major conceptual and technical difficulty usually. In this paper we adopt the approach of the gravitational Effective Average Action and demonstrate that generically coarse graining in Quantum Gravity and in standard field theories on a non-dynamical spacetime are profoundly different. By means of a concrete example, which in connection with the cosmological constant problem is also interesting in its own right, we show that the surprising and sometime…

Effects of Bending on Raman-active Vibration Modes of Carbon Nanotubes

2008

We investigate vibration modes and their Raman activity of single-walled carbon nanotubes that are bent within their intrinsic elastic limits. By implementing novel boundary conditions for density-functional based tight-binding, and using non-resonant bond polarization theory, we discover that Raman activity can be induced by bending. Depending on the degree of bending, high-energy Raman peaks change their positions and intensities significantly. These effects can be explained by migration of nodes and antinodes along tube circumference. We discuss the challenge of associating the predicted spectral changes with experimental observations.

Structural properties ofSi1−xGexalloys: A Monte Carlo simulation with the Stillinger-Weber potential

1995

The structural properties of binary silicon-germanium alloys are investigated by means of large-scale constant-pressure Monte Carlo simulations of the Stillinger-Weber model. At low temperatures, the binary-mixture phase separates into Si-rich and Ge-rich phases. The two-phase coexistence region is terminated by a critical point that belongs to the mean-field universality class. We also studied the structural properties of pure Si and Ge as well as the binary mixture. In particular, we found that the linear thermal expansions for both Si and Ge are in agreement with experiments, and that V\'egard's law is valid at temperatures above the critical point. Finally, we compare the bond-length an…

Labyrinthine instability of miscible magnetic fluids

2002

Abstract We consider an inhomogeneous magnetic fluid (MF), modeling a miscible MF pair, in a Hele–Shaw cell under a normal field. A linear stability analysis for the sharp straight interface (analytically) and for the diffused one (numerically) is performed. For the former case, the neutral curves and the stability diagram are found along with the critical wavelength and parameter values. Oscillatory or monotonous instabilities are shown to occur. For the diffused interface, we recognize the importance of 2D flow viscous effects along with the conventional wall friction and observe that in strong fields the dominant wavelength scales as the cell gap.

Elastic Properties and Line Tension of Self-Assembled Bilayer Membranes

2013

The elastic properties of a self-assembled bilayer membrane are studied using the self-consistent field theory, applied to a model system composed of flexible amphiphilic chains dissolved in hydrophilic polymeric solvents. Examining the free energy of bilayer membranes with different geometries allows us to calculate their bending modulus, Gaussian modulus, two fourth-order membrane moduli, and the line tension. The dependence of these parameters on the microscopic characteristics of the amphiphilic chain, characterized by the volume fraction of the hydrophilic component, is systematically studied. The theoretical predictions are compared with the results from a simple monolayer model, whic…

Growth mode and self-organization of LuPc2on Si(001)-2×1vicinal surfaces: An optical investigation

2012

We report an investigation of the initial growth and of the self-organization of lutetium biphthalocyanine LuPc2 on Si(001)-2 x 1 vicinal surfaces. Using surface-sensitive optical spectroscopies, namely, surface-difference-reflectance spectroscopy (SDRS) and reflectance-anisotropy spectroscopy (RAS), together with local-probe microscopies, we are able to propose a scenario for the growth mode up to about 20 nm. We demonstrate that the growth mode initially proceeds through the formation of a wetting layer, followed by the formation of clusters whose sizes increase while keeping a constant shape in which the molecules are inclined. Moreover, the LuPc2 molecules are self-organized along the s…