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1. Clinical and genetic characteristics of RANBP2 mutations in children with acute necrotizing encephalopathy NSTL国家科技图书文献中心

Fan, Chaonan |  Hao, Chanjuan... -  《Neurological sciences》 - 2025,46(4) - 1817~1826 - 共10页

摘要: mutation sites were identified, including c.7454G > T, c | . ConclusionThis study highlights novel RANBP2 mutation sites in | . ResultsBesides the common mutation site c.1754 C > T, new |  > G. These sites are highly conserved. Twenty-four |  RANBP2 mutation group (n = 26) and non-mutation group
关键词: Acute necrotizing encephalopathy |  RANBP2 |  Mutation sites |  Children

2. Enzyme-assisted upconversion fluorescence-encoded biosensing system for simultaneous detection of multiple sites EGFR mutation NSTL国家科技图书文献中心

Gao, Haiyang |  Si, Gao... -  《Analytical and bioanalytical chemistry》 - 2025,417(2) - 237~250 - 共14页

摘要: mutation types in patients are of great significance for |  mutation types, and its detection results were consistent | Epidermal growth factor receptor (EGFR | ) mutations play a key role in the development of a variety |  of cancers. Rapid detection and screening of EGFR
关键词: Fluorescence biosensor |  L858R and 19Del |  Upconversion nanoparticles |  ATRP

3. Pheochromocytoma in von Hippel‐Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma NSTL国家科技图书文献中心

Tianyi Li |  Yunying Cui... -  《Clinical Endocrinology》 - 2025,102(3) - 355~361 - 共7页

摘要: different mutation sites. Compared to sporadic PPGLs, VHL |  were identified between the mutation sites and the |  reviewed. Genetic testing for VHL mutation was conducted |  the Elongin‐C binding domain. The hotspot mutation |  sites were codon 161 and codon 167. Five novel
关键词: paraganglioma |  pheochromocytoma |  von Hippel‐Lindau disease

4. Rapid Analysis of Nucleic Acids by Matrix-Assisted Laser Desorption Ionization Time-Of-Flight Mass Spectrometry With a Data Algorithm NSTL国家科技图书文献中心

Xu, Zhen |  Xiong, Baolin... -  《Rapid Communications in Mass Spectrometry》 - 2025,39(6) - n/a~n/a - 共8页

摘要: deafness gene mutation sites. The algorithm includes |  identification of the mutation sites of deafness genes was also |  mutation screening. | RationaleMatrix-assisted laser desorption |  ionization time-of-flight mass spectrometry (MALDI-TOF-MS
关键词: data processing |  MALDI-TOF-MS |  qualitative analysis |  respiratory virus |  MALDI‐TOF‐MS

5. The whole genome and transcriptome analysis revealing the low virulence of Botrytis prunorum in grape berries NSTL国家科技图书文献中心

Qu, Jiayan |  Wang, Lujun... -  《Food Bioscience》 - 2025,68 - 共13页

摘要: strain had 421,290 mutation sites compared with the |  mutation sites in the R1V55#13 data. The mutation of | The Botrytis is a worldwide necrotrophic |  pathogen, that causes gray mold disease and infects many |  economic vegetables and fruit. B. prunorum presented
关键词: Botrytis prunorum |  Grape |  Pathogenicity |  Effector prediction

6. A Familial Analysis of Familial Hyperlipidemia Attributed to the Y2184C Mutation of the APOB Gene NSTL国家科技图书文献中心

Lou, Luping |  Lu, Chunqin -  《Clinical laboratory》 - 2025,71(1) - 158~161 - 共4页

摘要: of HeFH attributed to an APOB gene mutation. The |  high-throughput sequencing. The selected mutation |  sites were verified by sequencing using the Sanger |  method. Results: A heterozygous mutation, c.6551A>G |  mutation was initially considered. Conclusions: For
关键词: familial hypercholesterolemia |  APOB |  heterozygous familial hypercholesterolemia |  LDL-C

7. A High-Throughput Cell-Free Enzyme Screening System Using Redox-Responsive Hydrogel Beads as Artificial Compartments NSTL国家科技图书文献中心

Koga, Taisei |  Okawa, Yui... -  《ACS Synthetic Biology》 - 2025,14(3) - 995~1001 - 共7页

摘要: highly fluorescent HBs identified novel mutation sites | We have developed a rapid, simple, and high | -throughput screening system for recombinant enzymes using |  disulfide-bonded hydrogel beads (HBs) produced via a |  microfluidic method. These redox-responsive HBs were
关键词: cell-free protein synthesis |  fluorescence-activateddroplet sorter |  high-throughput screening |  hydrogelbeads |  microbial transglutaminase |  next-generationsequencing

8. High lead-tolerant mutant Bacillus tropicus AT31-1 from rhizosphere soil of Pu-erh and its remediation mechanism NSTL国家科技图书文献中心

Li, Qiang |  Yuan, Wenxia... -  《Bioresource Technology》 - 2025,416 - 共15页

摘要: AT31-1 had three mutation sites, which affect the | In this study, we successfully generated the |  mutant strain Bacillus tropicus AT31-1 from AT31 |  through atmospheric room-temperature plasma mutagenesis | . This mutant strain AT31-1 demonstrated an impressive
关键词: Bioremediation |  Soil treatment |  Heavy metals |  Genetic mechanism

9. Novel Compound Heterogeneous Mutations in CYB5R3 Gene Leading to Methemoglobinemia (Type I) in a Chinese Boy: Case Report and Relevant Comprehensive Analysis NSTL国家科技图书文献中心

Yang, Yeyi |  Yang, Yezhen... -  《Acta Haematologica》 - 2025,148(2) - 226~232 - 共7页

摘要:. The relationship between CYB5R3 gene mutation sites |  software, it was found that the mutation caused |  reported mutation. The homozygosity or heterozygosity of | Introduction: Recessive congenital |  methemoglobinemia (RCM) caused by CYB5R3 deficiency due to the
关键词: Congenital methemoglobinemia type I and type II |  Case report |  Mutation |  CYB5R3 gene

10. Analyses of CTNNB1 mutation and expression and clinicopathological characteristics in 179 cases of solid-pseudopapillary neoplasm of the pancreas NSTL国家科技图书文献中心

Zhao, Shuai |  Wang, Jian... -  《Journal of hepato-biliary-pancreatic sciences》 - 2025,32(4) - 327~338 - 共12页

摘要:. The main mutation sites were D32, S33, S37, G34 and |  clinical significance of CTNNB1 mutation detection for |  CTNNB1. NGS did not detect any consistent mutation | Background: Nuclear expression of CTNNB1 is |  occasionally negative in solid-pseudopapillary neoplasm (SPN
关键词: CTNNB1 expression |  CTNNB1 mutation |  diagnosis |  pancreas |  solid-pseudopapillary neoplasm
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