NSTL国家科技图书文献中心

1. SNV/Indel and CNV Analysis in Trio-WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost-Effectiveness NSTL国家科技图书文献中心

Qian, Guanhua | Yang, Nanyan ... - 《Clinical Genetics》 - 2025,107(4) - 402～412 - 共11页

摘要： based on trio-WES. One hundred eighty seven patients | and CNV analysis based on trio-WES, a robust, cost | Intellectual and developmental disabilities | (IDD) are clinically and genetically heterogeneous | disorders of global concern. While whole exome sequencing

关键词： copy number variation analysis | developmental delay | intellectual disability | single nucleotide variants/indel analysis | trio-whole exome sequencing | trio‐whole exome sequencing

2. Gut microbiota, vitamin A deficiency and autism spectrum disorder: an interconnected trio - a systematic review NSTL国家科技图书文献中心

Kacimi, Fatima Ezzah... | Didou, Latifa ... - 《Nutritional neuroscience》 - 2025,28(4) - 492～502 - 共11页

摘要：Accumulating evidence proves that children | with autism have gastrointestinal problems. However | , a significant difference in gut microbiota (GM | ) exists between autistic and non-autistic children | . These changes in the GM may stem from several factors

关键词： Autism spectrum disorder (ASD) | gut microbiota (GM) | vitamin A deficiency (VAD) | vitamin A supplementation (VAS) | retinoic acid (RA) | microbial diversity | maternal micronutrient supplementation | neurodevelopmental disorders

3. The social media discontinuance model: the trio of dark side, regret, and privacy control NSTL国家科技图书文献中心

Huang, Ziyue | Palvia, Prashant ... - 《Behaviour & information technology》 - 2025,44(1/5) - 523～551 - 共29页

摘要：This study introduces the Social Media | Discontinuance Model (SMDM), a conceptual framework aimed at | identifying the factors influencing social media | discontinuance intention. Previous research has primarily | addressed dissatisfaction and only partially addressed

关键词： Dark side experience | social media | discontinuance intention | regret | privacy control | valence | INFORMATION-SYSTEMS | NETWORK SITES | ORGANIZATIONAL RESEARCH | SPECIAL-ISSUE...

4. A Case Report of Teratoma Trio: Bilateral Ovarian Teratomas Coexistent With a Mesenteric Teratoma NSTL国家科技图书文献中心

Thakur, Shruti | Thakur, Charu Smita ... - 《Journal of diagnostic medical sonography》 - 2025,41(2) - 197～200 - 共4页

摘要：Teratomas arise from totipotent primordial | cells and unveil a mixture of tissues of tri-dermal or | bi-dermal origin. They are the most common ovarian | germ cell tumors. The extragonadal teratomas may be | seen in the sacrococcygeal region, mediastinum

关键词： Computed tomography | extragonadal | magnetic resonance imaging | mesenteric | ovarian | sonography | and teratoma

5. A crazy trio in Parkinson's disease: metabolism alteration, α-synuclein aggregation, and oxidative stress NSTL国家科技图书文献中心

Li, Sheng | Liu, Yanbing ... - 《Molecular and Cellular Biochemistry》 - 2025,480(1) - 139～157 - 共19页

摘要：Parkinson's disease (PD) is an aging | -associated neurodegenerative disorder, characterized by the | progressive loss of dopaminergic neurons in the pars | compacta of the substantia nigra and the presence of Lewy | bodies containing alpha-synuclein within these neurons

关键词： Parkinson's disease | Metabolism | Glycolysis | Lipid | Amino acid | alpha-Synuclein | Oxidative stress

6. The power trio: CoS-CoFe2O4-rGO ternary composite to enhance energy density of all-solid-state asymmetric supercapacitors NSTL国家科技图书文献中心

Shingte S.R. | Patil P.B.... - 《Journal of Energy Storage》 - 2025,106(Jan.) - 1.1～1.13 - 共13页

摘要：© 2024 Elsevier LtdThis study addresses a | critical challenge in supercapacitors by boosting their | energy density without compromising the power density | . For this, cobalt sulfidecobalt ferrite-reduced | graphene oxide (CS-CFO-rGO) nanocomposite was prepared

关键词： Asymmetric supercapacitor | Electric double layer capacitance | Energy density | Pseudocapacitance | Supercapacitor

7. Investigation of a Y-chromosome screening approach for sexual assault evidence using the QIAGEN Investigator Casework GO! kit NSTL国家科技图书文献中心

Bonsu, Dan Nana Osei | Mitchell, Natasha ... - 《Journal of forensic sciences.》 - 2025,70(3) - 1133～1148 - 共16页

摘要： the Quantifiler Trio* DNA quantification kit, for the* | Following an alleged sexual assault, a victim | may undergo a medical examination whereby internal | or external bodily swabs may be collected and | submitted to a forensic laboratory to be screened for the

关键词： Casework GO! | microscopy | Quantifiler (TM) Trio | semen | sexual assault | Y-screen | Quantifiler™ Trio | Y‐screen

8. Trio-WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China NSTL国家科技图书文献中心

Zhang, Ruixue | Li, Hongping ... - 《Molecular genetics and genomics》 - 2025,300(1) - 共9页

摘要：. Subsequent prenatal Trio-whole-exome sequencing identified | Congenital chloride diarrhea (CCD) is an | autosomal recessive disease, characterized by watery | diarrhea, hypochloremia and metabolic alkalosis. It is | associated with defects in solute carrier family 26 member

关键词： Congenital chloride diarrhea | Prenatal diagnosis | Solute Carrier Family 26 Member 3 | Mini-gene splicing assay

9. Trio-Colored Appraisal of Microwave-Assisted Synthesis of Carbon Quantum Dots as a Fluorescence Turn Off Nanoprobe for Analyzing Ledipasvir in Tablets and Rat Feces: Study of Silymarin Impact on Excretion Recovery NSTL国家科技图书文献中心

Ahmed, Aya R. | Elbordiny, Haydi S.... - 《Luminescence》 - 2025,40(3) - n/a～n/a - 共13页 - 被引量：1

摘要：The current work offers a rigorous way for the | microwave-assisted synthesis of N and S doped carbon | quantum dots (QDs). The latter are deemed highly | sensitive and selective fluorescence sensors that were | widely investigated in pharmaceutical analysis

关键词： carbon quantum dots | green, blue and white assessment | ledipasvir | quenching

10. Haplotyped genome mapping and functional characterization of a blueberry anthocyanin acetyltransferase (AAT) controlling the accumulation of acylated anthocyanins NSTL国家科技图书文献中心

Dare, Andrew P. | Wu, Chen ... - 《Journal of Experimental Botany》 - 2025,76(6) - 1607～1624 - 共18页

摘要：Blueberry has a diversity of anthocyanins that | confer its characteristic blue-coloured skin. Whilst | most cultivars produce only anthocyanin glycosides | , some can add aliphatic or aromatic groups to the | sugar moiety to create acylated anthocyanins. Due to

摘要： based on trio-WES. One hundred eighty seven patients | and CNV analysis based on trio-WES, a robust, cost | Intellectual and developmental disabilities | (IDD) are clinically and genetically heterogeneous | disorders of global concern. While whole exome sequencing

关键词： copy number variation analysis | developmental delay | intellectual disability | single nucleotide variants/indel analysis | trio-whole exome sequencing | trio‐whole exome sequencing

摘要：Accumulating evidence proves that children | with autism have gastrointestinal problems. However | , a significant difference in gut microbiota (GM | ) exists between autistic and non-autistic children | . These changes in the GM may stem from several factors

关键词： Autism spectrum disorder (ASD) | gut microbiota (GM) | vitamin A deficiency (VAD) | vitamin A supplementation (VAS) | retinoic acid (RA) | microbial diversity | maternal micronutrient supplementation | neurodevelopmental disorders

摘要：This study introduces the Social Media | Discontinuance Model (SMDM), a conceptual framework aimed at | identifying the factors influencing social media | discontinuance intention. Previous research has primarily | addressed dissatisfaction and only partially addressed

关键词： Dark side experience | social media | discontinuance intention | regret | privacy control | valence | INFORMATION-SYSTEMS | NETWORK SITES | ORGANIZATIONAL RESEARCH | SPECIAL-ISSUE...

摘要：Teratomas arise from totipotent primordial | cells and unveil a mixture of tissues of tri-dermal or | bi-dermal origin. They are the most common ovarian | germ cell tumors. The extragonadal teratomas may be | seen in the sacrococcygeal region, mediastinum

关键词： Computed tomography | extragonadal | magnetic resonance imaging | mesenteric | ovarian | sonography | and teratoma

摘要：Parkinson's disease (PD) is an aging | -associated neurodegenerative disorder, characterized by the | progressive loss of dopaminergic neurons in the pars | compacta of the substantia nigra and the presence of Lewy | bodies containing alpha-synuclein within these neurons

关键词： Parkinson's disease | Metabolism | Glycolysis | Lipid | Amino acid | alpha-Synuclein | Oxidative stress

摘要：© 2024 Elsevier LtdThis study addresses a | critical challenge in supercapacitors by boosting their | energy density without compromising the power density | . For this, cobalt sulfidecobalt ferrite-reduced | graphene oxide (CS-CFO-rGO) nanocomposite was prepared

关键词： Asymmetric supercapacitor | Electric double layer capacitance | Energy density | Pseudocapacitance | Supercapacitor

摘要： the Quantifiler Trio* DNA quantification kit, for the* | Following an alleged sexual assault, a victim | may undergo a medical examination whereby internal | or external bodily swabs may be collected and | submitted to a forensic laboratory to be screened for the

关键词： Casework GO! | microscopy | Quantifiler (TM) Trio | semen | sexual assault | Y-screen | Quantifiler™ Trio | Y‐screen

摘要：. Subsequent prenatal Trio-whole-exome sequencing identified | Congenital chloride diarrhea (CCD) is an | autosomal recessive disease, characterized by watery | diarrhea, hypochloremia and metabolic alkalosis. It is | associated with defects in solute carrier family 26 member

关键词： Congenital chloride diarrhea | Prenatal diagnosis | Solute Carrier Family 26 Member 3 | Mini-gene splicing assay

摘要：The current work offers a rigorous way for the | microwave-assisted synthesis of N and S doped carbon | quantum dots (QDs). The latter are deemed highly | sensitive and selective fluorescence sensors that were | widely investigated in pharmaceutical analysis

关键词： carbon quantum dots | green, blue and white assessment | ledipasvir | quenching

摘要：Blueberry has a diversity of anthocyanins that | confer its characteristic blue-coloured skin. Whilst | most cultivars produce only anthocyanin glycosides | , some can add aliphatic or aromatic groups to the | sugar moiety to create acylated anthocyanins. Due to

关键词： Causative variant | genome assembly | polyploid | quantitative trait locus (QTL) | trio-binning | Vaccinium

4008-161-200 800-990-8900

国家科技图书文献中心

摘要： based on trio-WES. One hundred eighty seven patients | and CNV analysis based on trio-WES, a robust, cost | Intellectual and developmental disabilities | (IDD) are clinically and genetically heterogeneous | disorders of global concern. While whole exome sequencing

关键词： copy number variation analysis | developmental delay | intellectual disability | single nucleotide variants/indel analysis | trio-whole exome sequencing | trio‐whole exome sequencing

摘要：Accumulating evidence proves that children | with autism have gastrointestinal problems. However | , a significant difference in gut microbiota (GM | ) exists between autistic and non-autistic children | . These changes in the GM may stem from several factors

关键词： Autism spectrum disorder (ASD) | gut microbiota (GM) | vitamin A deficiency (VAD) | vitamin A supplementation (VAS) | retinoic acid (RA) | microbial diversity | maternal micronutrient supplementation | neurodevelopmental disorders

摘要：This study introduces the Social Media | Discontinuance Model (SMDM), a conceptual framework aimed at | identifying the factors influencing social media | discontinuance intention. Previous research has primarily | addressed dissatisfaction and only partially addressed

关键词： Dark side experience | social media | discontinuance intention | regret | privacy control | valence | INFORMATION-SYSTEMS | NETWORK SITES | ORGANIZATIONAL RESEARCH | SPECIAL-ISSUE...

摘要：Teratomas arise from totipotent primordial | cells and unveil a mixture of tissues of tri-dermal or | bi-dermal origin. They are the most common ovarian | germ cell tumors. The extragonadal teratomas may be | seen in the sacrococcygeal region, mediastinum

关键词： Computed tomography | extragonadal | magnetic resonance imaging | mesenteric | ovarian | sonography | and teratoma

摘要：Parkinson's disease (PD) is an aging | -associated neurodegenerative disorder, characterized by the | progressive loss of dopaminergic neurons in the pars | compacta of the substantia nigra and the presence of Lewy | bodies containing alpha-synuclein within these neurons

关键词： Parkinson's disease | Metabolism | Glycolysis | Lipid | Amino acid | alpha-Synuclein | Oxidative stress

摘要：© 2024 Elsevier LtdThis study addresses a | critical challenge in supercapacitors by boosting their | energy density without compromising the power density | . For this, cobalt sulfidecobalt ferrite-reduced | graphene oxide (CS-CFO-rGO) nanocomposite was prepared

关键词： Asymmetric supercapacitor | Electric double layer capacitance | Energy density | Pseudocapacitance | Supercapacitor

摘要： the Quantifiler Trio DNA quantification kit, for the | Following an alleged sexual assault, a victim | may undergo a medical examination whereby internal | or external bodily swabs may be collected and | submitted to a forensic laboratory to be screened for the

关键词： Casework GO! | microscopy | Quantifiler (TM) Trio | semen | sexual assault | Y-screen | Quantifiler™ Trio | Y‐screen

摘要：. Subsequent prenatal Trio-whole-exome sequencing identified | Congenital chloride diarrhea (CCD) is an | autosomal recessive disease, characterized by watery | diarrhea, hypochloremia and metabolic alkalosis. It is | associated with defects in solute carrier family 26 member

关键词： Congenital chloride diarrhea | Prenatal diagnosis | Solute Carrier Family 26 Member 3 | Mini-gene splicing assay

摘要：The current work offers a rigorous way for the | microwave-assisted synthesis of N and S doped carbon | quantum dots (QDs). The latter are deemed highly | sensitive and selective fluorescence sensors that were | widely investigated in pharmaceutical analysis

关键词： carbon quantum dots | green, blue and white assessment | ledipasvir | quenching

摘要：Blueberry has a diversity of anthocyanins that | confer its characteristic blue-coloured skin. Whilst | most cultivars produce only anthocyanin glycosides | , some can add aliphatic or aromatic groups to the | sugar moiety to create acylated anthocyanins. Due to

关键词： Causative variant | genome assembly | polyploid | quantitative trait locus (QTL) | trio-binning | Vaccinium

4008-161-200 800-990-8900

国家科技图书文献中心

摘要： the Quantifiler Trio* DNA quantification kit, for the* | Following an alleged sexual assault, a victim | may undergo a medical examination whereby internal | or external bodily swabs may be collected and | submitted to a forensic laboratory to be screened for the