Search Results - "Jia, Chenlu"

Newborn screening and genomic analysis of duchenne muscular dystrophy in Henan, China by Jia, Chenlu, Zhao, Dehua, Li, Yanru, Gao, Yanbo, Zhang, Xiaoli, Li, Xiaole, Lv, Shubo, Li, Runqing, Zhu, Xinyun, Liu, Suna

“…•The NBS cut-off value for DMD screening was established by detecting CK-MM level in DBS based on a large cohort of Henan population.•The estimated incidence…”
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Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening by Li, Xiaole, Zhu, Xinyun, Jia, Chenlu, Ni, Min, Li, Ying, Zhang, Linlin, Zhao, Dehua

“…To study the prevalence, clinical and genetic characteristics of primary carnitine deficiency (PCD). From January 2013 to December 2017, 720 667 newborns and…”
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Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan by Li, Liangshan, Jia, Chenlu, Li, Xiaole, Wang, Fang, Wang, Yangang, Chen, Yanping, Liu, Shiguo, Zhao, Dehua

“…•The estimated TTF mutation rate among CH cases was 3.63% in Henan Province.•Genetic alternations in TTF genes played a role not only in TD but also in GIS,…”
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Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China by Zhao, Dehua, Ni, Min, Jia, Chenlu, Li, Xiaole, Zhu, Xinyun, Liu, Suna, Su, Li, Lv, Shubo, Wang, Liwen, Jia, Liting

“…BACKGROUNDHypermethioninemia is an inborn error of metabolism with elevated plasma methionine (Met) caused by methionine adenosyltransferase deficiency…”
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Analysis of gene mutations of medium-chain acyl-coenzyme a dehydrogenase deficiency (MCADD) by next-generation sequencing in Henan, China by Tian, Yuan, Zhu, Xinyun, Lv, Shubo, Jia, Chenlu, Zhang, Linlin, Ni, Min, Xu, Yizhuo, Peng, Rui, Liu, Suna, Zhao, Dehua

“…•The incidence of neonatal Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) was1/40,842 in Henan province, China.•Mutation c.1085G > A (p.G362E)…”
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Dithienylethenes functionalized by triphenylethene and difluoroboron β-diketonate fragments: Synthesis, optical switching behavior and fluorescent turn-on sensing for volatile organic amines by Li, Ziyong, Gao, Xinyu, Hu, Xiaoxiao, Zhang, Xiaoman, Jia, Chenlu, Liu, Congmin, Shen, Limin, Zhu, Huijuan, Cui, Mengxia, Lu, Zhiqiang, Guo, Hui

“…Two novel dithienylethenes were obtained by appending triphenylethene and BF2bdk moieties at the termini of dithienylethene unit (TDBB and TDTB), in which…”
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Wellness Tourism: The Case of Deyi Wellness Hotel in Hainan Province, China by Jia, Chenlu

“…Em todo o mundo, as pessoas aspiram ao bem-estar e esta tendência sinaliza uma das mais interessantes oportunidades de mercado para os investidores. Na…”
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Analysis of GCH1 gene variant in a consanguineous Chinese pedigree affected with tetrahydrobiopterin deficiency by Li, Xiaole, Zhu, Dengna, Liu, Suna, Jia, Chenlu, Guo, Yaqing, Zhang, Linlin, Wang, Mingmei, Zhao, Dehua

“…To explore the genetic basis for a child featuring tetrahydrobiopterin deficiency and global developmental delay. Clinical and laboratory examinations were…”
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Research on Data Access Management Based on Blockchain Engine by Jia, Chenlu, Geng, Yue, Sun, Shuo

“…With the popularity of cloud computing, cloud storage, as a part of cloud computing services, has also attracted extensive attention because of its flexibility…”
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Prediction Method of Spiritual and Cultural Needs of the Aged Based on BP Neural Network by Geng, Yue, Wei, Wei, Jia, Chenlu

“…With the rapid development of the economy, people's living standard is constantly improving. The world is also facing the trend of aging population evolution…”
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Financial Risk Early Warning Model Based on Intelligent Data Monitoring by Jia, Chenlu, Sun, Shuo, Geng, Yue

“…With the development of economic globalization, the market economic environment on which all kinds of enterprises depend also presents complex and changeable…”
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Research on Intelligent elderly care system based on Neural Network by Geng, Yue, Jia, Chenlu, Sun, Shuo

“…The Internet plus nursing home has formed a new type of "virtual nursing home". At the same time, there are many problems in this mode. For example, it is…”
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Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan by Zhao, Dehua, Li, Xiaole, Jia, Chenlu, Ni, Min, Kong, Xiangdong

“…To delineate the mutation spectrum of phenylalanine hydroxylase (PAH) gene among patients affected with phenylalanine hydroxylase deficiency (PAHD) in Henan…”
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Simulation Research on Rapid Decompression of Aircraft Cabins by Zhang, Tong, Lin, Guiping, Bu, Xueqin, Jia, Chenlu, Du, Chenhui

“…In this paper, a model for simulating the rapid decompression of aircraft cabins is developed. The air flow between the cabins as well as between the damaged…”
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表面形貌对螺旋线形跨尺度电化学葡萄糖传感器性能的影响 by 景蔚萱 周帆 成妍妍 齐含 陈路加 蒋庄德 王兵

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