Results 21 to 30 of about 3,022,656 (326)

Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly

open access: yesMolecular Genetics & Genomic Medicine, 2019
Background Rubinstein–Taybi syndrome (RSTS) is a rare genetic disease characterized by broad thumbs and halluces, facial dysmorphisms, short stature, and intellectual disability.
Sha Yu   +10 more
doaj   +1 more source

Role of friction in multidefect ordering

open access: yes, 2020
We use continuum simulations to study the impact of friction on the ordering of defects in an active nematic. Even in a frictionless system, +1/2 defects tend to align side-by-side and orient antiparallel reflecting their propensity to form, and ...
Nejad, Mehrana R.   +2 more
core   +1 more source

Nanoscale gold pillars strengthened through dislocation starvation [PDF]

open access: yes, 2006
It has been known for more than half a century that crystals can be made stronger by introducing defects into them, i.e., by strain-hardening. As the number of defects increases, their movement and multiplication is impeded, thus strengthening the ...
Greer, Julia R., Nix, William D.
core   +1 more source

Topological defects of N\'eel order and Kondo singlet formation for Kondo-Heisenberg model on a honeycomb lattice [PDF]

open access: yes, 2013
Heavy fermion systems represent a prototypical setting to study magnetic quantum phase transitions. A particular focus has been on the physics of Kondo destruction, which captures quantum criticality beyond the Landau framework of order-parameter ...
Goswami, Pallab, Si, Qimiao
core   +2 more sources

Doppelganger defects

open access: yes, 2010
We study k-defects - topological defects in theories with more than two derivatives and second-order equations of motion - and describe some striking ways in which these defects both resemble and differ from their analogues in canonical scalar field ...
A. Vilenkin   +5 more
core   +1 more source

The changing epidemiology of syndactyly in Chinese newborns: a nationwide surveillance-based study

open access: yesBMC Pregnancy and Childbirth, 2023
Background Little is known about the epidemiologic features of syndactyly (SD) in Chinese newborns. Methods Using 2007–2019 data from the Chinese Birth Defects Monitoring Network, we conducted a prevalence analysis on overall, isolated and associated ...
Zhi-Yu Chen   +7 more
doaj   +1 more source

Native defects in ultra-high vacuum grown graphene islands on Cu(111)

open access: yes, 2015
We present a scanning tunneling microscopy (STM) study of native defects in graphene islands grown by ultra-high vacuum (UHV) decomposition of ethylene on Cu(111).
Gambrel, G. A.   +6 more
core   +1 more source

Defect branes [PDF]

open access: yesNuclear Physics B, 2012
We discuss some general properties of "defect branes", i.e. branes of co-dimension two, in (toroidally compactified) IIA/IIB string theory. In particular, we give a full classification of the supersymmetric defect branes in dimensions 2 < D < 11 as well as their higher-dimensionalstring and M-theory origin as branes and a set of "generalized ...
Bergshoeff, Eric A.   +2 more
openaire   +4 more sources

Development and Validation of the CHDSI Questionnaire: A New Tool for Measuring Disease-Specific Quality of Life in Children and Adolescents with Congenital Heart Defects

open access: yesMedicina
Background and Objectives: Congenital heart defects (CHD) affect around 1% of the population, making them the most common congenital disease worldwide. Thanks to advances in treatment, over 90% of affected children are able to reach adulthood, shifting ...
Paul C. Helm   +3 more
doaj   +1 more source

Algebraic approach to multiple defects on the line and application to Casimir force

open access: yes, 2007
An algebraic framework for quantization in presence of arbitrary number of point-like defects on the line is developed. We consider a scalar field which interacts with the defects and freely propagates away of them.
Mintchev, M., Ragoucy, E.
core   +2 more sources

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