Results 21 to 30 of about 797,211 (269)

A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

open access: yesMolecular Cytogenetics, 2020
Background Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion as the genetic cause in a Chinese
Hui Xi   +7 more
doaj   +1 more source

Development and Assessment of Screening Nomogram for Biliary Atresia Based on Hepatobiliary Ultrasonographic Features

open access: yesFrontiers in Pediatrics, 2021
Objectives: Biliary atresia (BA) is a rare neonatal liver disease of which the early diagnosis remains a challenge for clinicians. Our center has established a nomogram diagnostic model based on clinical characteristics and liver function characteristics.
Shu Yang Dai   +6 more
doaj   +1 more source

Defects and defect engineering in Soft Matter

open access: yesSoft Matter, 2020
Defect engineering is a success story in crystalline hard matter; this review summarizes its parallels in amorphous soft matter.
Amir Jangizehi   +4 more
openaire   +4 more sources

Semilocal defects [PDF]

open access: yesPhysical Review D, 1992
I analyze the interplay of gauge and global symmetries in the theory of topological defects. In a two-dimensional model in which both gauge symmetries and {\it exact} global symmetries are spontaneously broken, stable vortices may fail to exist even though magnetic flux is topologically conserved.
openaire   +4 more sources

Defects of algebraic function fields, completion defects and defect quotients [PDF]

open access: yes, 2014
The {\it defect} (also called {\it ramification deficiency}) of valued field extensions is a major stumbling block in deep open problems of valuation theory in positive characteristic. For a detailed analysis, we define and investigate two weaker notions of defect: the {\it completion defect} and the {\it defect quotient}.
Kuhlmann, Franz-Viktor, Naseem, Asim
openaire   +2 more sources

LOX-1 mediates inflammatory activation of microglial cells through the p38-MAPK/NF-κB pathways under hypoxic-ischemic conditions

open access: yesCell Communication and Signaling, 2023
Background Microglial cells play an important role in the immune system in the brain. Activated microglial cells are not only injurious but also neuroprotective.
Yoshinori Aoki   +8 more
doaj   +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

When defects are not defects

open access: yesNature Materials, 2018
Line defects in two-dimensional borophene can self-assemble into new crystalline phases, blurring the distinctions between perfect and defective crystal.
openaire   +3 more sources

Defects and perturbation [PDF]

open access: yesJournal of High Energy Physics, 2021
Abstract We investigate perturbatively tractable deformations of topological defects in two-dimensional conformal field theories. We perturbatively compute the change in the g-factor, the reflectivity, and the entanglement entropy of the conformal defect at the end of these short RG flows.
openaire   +5 more sources

Association of maternal phthalates exposure and metabolic gene polymorphisms with congenital heart diseases: a multicenter case-control study

open access: yesBMC Pregnancy and Childbirth
Background The majority of congenital heart diseases (CHDs) are thought to result from the interactions of genetics and the environment factors. This study aimed to assess the association of maternal non-occupational phthalates exposure, metabolic gene ...
Nana Li   +12 more
doaj   +1 more source

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