Results 21 to 30 of about 1,902,450 (297)

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

Molecular 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, Ying Peng, Wanqin Xie, Jialun Pang, Na Ma, Shuting Yang, Jinping Peng, Hua Wang   +7 more
doaj   +1 more source

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

Frontiers 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, Yu Qi Sun, Ying Wu, Gong Chen, Song Sun, Rui Dong, Shan Zheng   +6 more
doaj   +1 more source

Defects, disorder and strong electron correlations in orbital degenerate, doped Mott insulators [PDF]

, 2015
We elucidate the effects of defect disorder and $e$-$e$ interaction on the spectral density of the defect states emerging in the Mott-Hubbard gap of doped transition-metal oxides, such as Y$_{1-x}$Ca$_{x}$VO$_{3}$.
Avella, Adolfo, Horsch, Peter, Oleś, Andrzej M.   +2 more
core   +2 more sources

Deformed defects [PDF]

Physical Review D, 2002
We introduce a method to obtain deformed defects starting from a given scalar field theory which possesses defect solutions. The procedure allows the construction of infinitely many new theories that support defect solutions, analytically expressed in terms of the defects of the original theory. The method is general, valid for both topological and non-
Bazeia, D., Losano, L., Malbouisson, J. M. C.   +2 more
openaire   +2 more sources

A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5

BMC Medical Genetics, 2020
Background Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and motor deterioration, visual failure ...
Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen   +10 more
doaj   +1 more source

A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8

Molecular Genetics & Genomic Medicine, 2021
Background Nemaline myopathy 8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, contractures, fractures, respiratory failure and swallowing difficulties apparent at birth.
Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen   +13 more
doaj   +1 more source

Quantum transport properties of ultrathin silver nanowires [PDF]

, 2002
The quantum transport properties of the ultrathin silver nanowires are investigated. For a perfect crystalline nanowire with four atoms per unit cell, three conduction channels are found, corresponding to three $s$ bands crossing the Fermi level.
Calin, Buia, Han, Jie, Lu, Jian Ping, Zhao, Jijun   +3 more
core   +3 more sources

Molecular Dynamics Simulation of Coherent Interfaces in Fluorite Heterostructures [PDF]

, 2014
The standard model of enhanced ionic conductivities in solid electrolyte heterostructures follows from a continuum mean-field description of defect distributions that makes no reference to crystalline structure.
Madden, Paul A., Morgan, Benjamin J.
core   +3 more sources

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

Cell 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, Hongmei Dai, Fumika Furuta, Tomohisa Akamatsu, Takuya Oshima, Naoto Takahashi, Yu-ichi Goto, Akira Oka, Masayuki Itoh   +8 more
doaj   +1 more source

Correlating the nanostructure and electronic properties of InAs nanowires [PDF]

, 2010
The electronic properties and nanostructure of InAs nanowires are correlated by creating multiple field effect transistors (FETs) on nanowires grown to have low and high defect density segments.
Adhikari H., Björk M. T., Bleszynski A. C., Chueh Y.-L., Crain J., Dayeh S. A., Dhara S., Dick K. A., Fasth C., Fasth C., Ford A. C., Fortuna S. A., Fuhrer A., Glas F., Greytak A. B., Han S., Hanson R., Huang M. H., Jiang X., Johansson J., Joyce H. J., Klitzing K. v., Koguchi M., Krishnamachari U., Liang C. H., Liang D., Nilsson H. A., Parkinson P., Pemasiri K., Persson A. I., Pfeiffer L., Schroer M. D., Shorubalko I., Shorubalko I., Shtrikman H., Shtrikman H., Suyatin D. B., Thelander C., Tsui D. C., Tu R., Wacaser B. A., Wagner R. S., Woo R. L., Yeh C.-Y., Yu H.   +44 more
core   +1 more source