Sequence analysis

序列分析
  • 文章类型: Journal Article
    该研究的目的是评估五种常用甜味剂(葡萄糖,菊粉,异麦芽酮糖,塔格糖,海藻糖)含有口腔微生物组上的漱口水。
    单中心,双盲,平行随机临床试验与健康,18-55岁的志愿者(N=65),他每天用10%的一种甜味剂溶液冲洗三次,持续两周。通过V4高变区(IlluminaMiSeq)的16SRNA基因扩增子测序分析了牙龈上牙菌斑和舌背涂层的微生物组成。作为次要结果,测量牙菌斑红色荧光和唾液pH。
    两组的牙菌斑菌群发生了显着变化:菊粉(F=2.0239,p=0.0006PERMANOVA,Aitchison距离)和异麦芽酮糖(F=0.67,p=0.0305)。对于舌头微生物群,异麦芽酮糖(F=0.8382,p=0.0452)和海藻糖(F=1.0119,p=0.0098)均有显著变化。在牌匾上,菊粉组有13种显著变化,而舌苔,海藻糖组改变了三个物种(ALDEx2,p<0.1)。次要结果没有观察到显著变化。
    对口腔微生物群的影响是甜味剂依赖性的,对斑块微生物群的影响最显著。菊粉在所测试的甜味剂中表现出最强的微生物调节潜力。需要进一步的全面临床研究。
    UNASSIGNED: The aim of the study was to evaluate the modulating effects of five commonly used sweetener (glucose, inulin, isomaltulose, tagatose, trehalose) containing mouth rinses on the oral microbiome.
    UNASSIGNED: A single-centre, double-blind, parallel randomized clinical trial was performed with healthy, 18-55-year-old volunteers (N = 65), who rinsed thrice-daily for two weeks with a 10% solution of one of the allocated sweeteners. Microbiota composition of supragingival dental plaque and the tongue dorsum coating was analysed by 16S RNA gene amplicon sequencing of the V4 hypervariable region (Illumina MiSeq). As secondary outcomes, dental plaque red fluorescence and salivary pH were measured.
    UNASSIGNED: Dental plaque microbiota changed significantly for two groups: inulin (F = 2.0239, p = 0.0006 PERMANOVA, Aitchison distance) and isomaltulose (F = 0.67, p = 0.0305). For the tongue microbiota, significant changes were observed for isomaltulose (F = 0.8382, p = 0.0452) and trehalose (F = 1.0119, p = 0.0098). In plaque, 13 species changed significantly for the inulin group, while for tongue coating, three species changed for the trehalose group (ALDEx2, p < 0.1). No significant changes were observed for the secondary outcomes.
    UNASSIGNED: The effects on the oral microbiota were sweetener dependant with the most pronounced effect on plaque microbiota. Inulin exhibited the strongest microbial modulating potential of the sweeteners tested. Further full-scale clinical studies are required.
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  • 文章类型: Journal Article
    N4-甲基胞嘧啶(4mC)是DNA中发现的胞嘧啶的修饰形式,有助于表观遗传调控。它存在于各种基因组中,包括玫瑰科家族,包括苹果等重要的水果作物,樱桃,和玫瑰。以前的研究已经检查了玫瑰科基因组中4mC位点的分布和功能意义,关注它们在基因表达调控中的潜在作用,环境适应,和进化。这项研究旨在提高预测Fragariavesca基因组中4mC位点的准确性,玫瑰科植物物种。在原始4mc-w2vec方法的基础上,它结合了单词嵌入处理和卷积神经网络(CNN),我们已经结合了额外的特征编码技术,并利用预训练的自然语言处理(NLP)模型与不同的深度学习架构,包括不同形式的CNN,递归神经网络(RNN)和长短期记忆(LSTM)。我们的评估表明,最佳模型来自使用fastText编码的CNN模型。此模型展示了增强的性能,在独立数据集上,灵敏度为0.909,特异性为0.77,准确性为0.879。此外,我们的模型超越了以前在同一数据集上发布的作品,从而展示了其卓越的预测能力。
    N4-methylcytosine (4mC) is a modified form of cytosine found in DNA, contributing to epigenetic regulation. It exists in various genomes, including the Rosaceae family encompassing significant fruit crops like apples, cherries, and roses. Previous investigations have examined the distribution and functional implications of 4mC sites within the Rosaceae genome, focusing on their potential roles in gene expression regulation, environmental adaptation, and evolution. This research aims to improve the accuracy of predicting 4mC sites within the genome of Fragaria vesca, a Rosaceae plant species. Building upon the original 4mc-w2vec method, which combines word embedding processing and a convolutional neural network (CNN), we have incorporated additional feature encoding techniques and leveraged pre-trained natural language processing (NLP) models with different deep learning architectures including different forms of CNN, recurrent neural networks (RNN) and long short-term memory (LSTM). Our assessments have shown that the best model is derived from a CNN model using fastText encoding. This model demonstrates enhanced performance, achieving a sensitivity of 0.909, specificity of 0.77, and accuracy of 0.879 on an independent dataset. Furthermore, our model surpasses previously published works on the same dataset, thus showcasing its superior predictive capabilities.
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  • 文章类型: Journal Article
    为了研究网状内皮增生病病毒(REV)在鸽痘病毒(PPV)中的整合,我们收集了可疑的猪痘病材料,扩增了PPV的4b核心蛋白基因,REV的gp90基因,以及从PPV的ORF201片段的末端到REV的LTR的开始的整合序列片段,并对这些基因进行了测序。结果表明,扩增出332bp的4b核心蛋白片段,鉴定为鸽痘病毒,它被命名为SX/TY/LTR01/2023。序列分析表明,该鸽痘病毒分离株属于与国产CVL株最接近的A2基因型,99.4%的身份。从REV的gp90基因中扩增出1191bp的条带,命名为SX/TY/PPV-REV01/2023,序列分析表明REV属于基因型III。序列分析表明,REV属于基因型III,与国内分离株JSRD0701和LNR0801属于同一大分支,同一性为99.3%。整合的序列片段被扩增为637bp的条带,这确定REV序列整合在PPV中,而不是两种病毒的混合感染。这表明REV集成在PPV的隔离中,这表明鸽子养殖场在预防鸽子痘的同时需要预防网状内皮增生。
    In order to study the integration of reticuloendotheliosis virus (REV) in pigeonpox virus (PPV), we collected suspected pigeonpox disease material, amplified the 4b core protein gene of PPV, the gp90 gene of REV, and the integrated sequence fragments from the end of the ORF201 segment of PPV to the beginning of the LTR of REV, and sequenced these genes. The results showed that a 4b core protein fragment of 332 bp was amplified and identified as pigeonpox virus, which was named SX/TY/LTR 01/2023. Sequence analysis showed that the pigeonpox virus isolate belonged to genotype A2, which was the closest to the domestic CVL strain, with a identity of 99.4%. A band of 1191 bp was amplified from the gp90 gene of REV, named SX/TY/PPV-REV01/2023, and sequence analysis indicated that REV belonged to genotype III. The sequence analysis showed that REV belonged to genotype III, and belonged to the same large branch as the domestic isolates JSRD0701 and LNR0801, with 99.3% identity. The integrated sequence fragment was amplified to a band of 637 bp, which determined that the REV sequence was integrated in the PPV rather than a mixed infection of the two viruses. This indicates that REV was integrated in this isolation of PPV, suggesting that pigeon farms need to prevent reticuloendotheliosis at the same time when preventing pigeonpox.
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  • 文章类型: Preprint
    工作生活与生活方式有关,筛选摄取,和职业健康风险可以解释癌症发病的差异。为了更好地理解工作寿命和癌症风险之间的关系,我们需要考虑整个就业历史。我们调查了终身就业轨迹是否与癌症风险相关。我们使用了6,809名女性和5,716名男性的数据,平均年龄70岁,根据健康调查,老龄化,退休在欧洲。使用生活日历回顾性收集16至65岁的就业历史,并使用序列分析构建轨迹。使用逻辑回归评估就业轨迹与自我报告的癌症之间的关联。我们确定了女性的八个就业轨迹和男性的两个就业轨迹。在女性中,癌症的风险更高,“主要是全职家庭/家庭”,\“全职或家庭/家庭到兼职\”,“主要是全职”,和“其他”与“主要是家庭/家庭”轨迹相比。在男性中,与“主要是全职”相比,“主要是自营职业”的癌症风险较低。我们可以展示就业轨迹如何与癌症风险相关,强调序列分析对生命过程流行病学的潜力。需要更多的研究来理解这些关联并确定是否存在因果关系。
    Working life is associated with lifestyle, screening uptake, and occupational health risks that may explain differences in cancer onset. To better understand the association between working life and cancer risk, we need to account for the entire employment history. We investigated whether lifetime employment trajectories are associated with cancer risk. We used data from 6,809 women and 5,716 men, average age 70 years, from the Survey of Health, Ageing, and Retirement in Europe. Employment history from age 16 to 65 was collected retrospectively using a life calendar and trajectories were constructed using sequence analysis. Associations between employment trajectories and self-reported cancer were assessed using logistic regression. We identified eight employment trajectories for women and two for men. Among women, the risk of cancer was higher in the trajectories \"Mainly full-time to home/family\", \"Full-time or home/family to part-time\", \"Mainly full-time\", and \"Other\" compared with the \"Mainly home/family\" trajectory. Among men, the risk of cancer was lower in the \"Mainly self-employment\" trajectory compared with \"Mainly full-time\". We could show how employment trajectories were associated with cancer risk, underlining the potential of sequence analysis for life course epidemiology. More research is needed to understand these associations and determine if causal relationships exist.
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  • 文章类型: Journal Article
    在隐匿性丙型肝炎病毒感染(OCI)中,丙型肝炎病毒核糖核酸(HCVRNA)在外周血单核细胞(PBMC)中可检测到,但在血清或血浆中不明显。血清阴性抗HCV抗体患者对OCI的理解有限。
    在这项研究中,通过分子分析和系统发育分析鉴定了血清阴性OCI血液透析(HD)患者的6株HCV分离株.使用原代初始PBMC培养系统离体评估病毒感染性。同时表征从10名患有慢性HCV感染(CCI)的患者的PBMC中获得的HCV分离株,并将其用作细胞培养物中的阳性对照。
    5'非翻译区(UTR)和非结构5B(NS5B)区的序列分析显示,HCV基因型3是OCI和CCI组中最普遍的病毒类型。一种隐匿性HCV分离株被鉴定为混合型。OCI组(M=3.4,SD=0.7)的PBMC样品中的平均病毒载量(log10RNA拷贝/106个细胞)低于CCI组(M=4.6,SD=1.7)。在文化上,在六个初始PBMC培养物中的五个中检测到从头OCI-HCV复制。重复分析显示在5'-UTR的结构域III中添加了单个鸟嘌呤,但保留了整体分子结构。
    血清阴性OCI是一种活跃的感染形式,在PBMC中以低水平复制。序列性OCI可以与CCI共享相同的传输路由。保留的病毒能力可能对其持久性有影响。
    UNASSIGNED: In occult hepatitis C virus infection (OCI), hepatitis C virus ribonucleic acid (HCV RNA) is detectable in peripheral blood mononuclear cells (PBMCs) but is not evident in serum or plasma. Understanding of OCI in patients with seronegative anti-HCV antibodies is limited.
    UNASSIGNED: In this study, six HCV isolates from haemodialysis (HD) patients with seronegative OCI were identified by molecular assays and phylogenetic analysis. The virus infectivity was assessed ex vivo using a primary naïve PBMC culture system. HCV isolates obtained from the PBMCs of 10 patients with chronic HCV infection (CCI) were characterised concurrently and used as positive controls in the cell culture.
    UNASSIGNED: Sequence analysis of the 5\' untranslated region (UTR) and non-structural 5B (NS5B) region revealed that HCV genotype 3 was the most prevalent virus type in both the OCI and CCI groups. One of the occult HCV isolates was identified as a mixed type. The mean viral load (log10 RNA copies/106 cells) in the PBMC samples of the OCI group (M = 3.4, SD = 0.7) was lower than that of the CCI group (M = 4.6, SD = 1.7). Upon culture, de novo OCI-HCV replicates were detected in five out of six naïve PBMC cultures. Analysis of the replicates showed a single guanine addition in the domain III of 5\'-UTR but the overall molecular structure was retained.
    UNASSIGNED: Seronegative OCI is an active form of infection that replicates at a low level in PBMCs. Seronegative OCI may share the same route of transmission as CCI. The retained viral competency may have an implication for its persistence.
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  • 文章类型: Journal Article
    近年来,古代基因组学彻底改变了我们对人类进化和迁移历史的理解。这里,我们提出了为古代基因组学研究准备样本的协议。我们描述了从人类遗骸中释放DNA的步骤,DNA文库构建,杂交捕获,量化,和测序。然后,我们详细介绍了作图序列读取和群体遗传学分析的程序。该协议还概述了提取古代DNA样本和鉴定古代DNA以揭示古代种群的遗传历史和多样性的挑战。有关此协议的使用和执行的完整详细信息,请参阅Taoetal.1。
    Ancient genomics has revolutionized our understanding of human evolution and migration history in recent years. Here, we present a protocol to prepare samples for ancient genomics research. We describe steps for releasing DNA from human remains, DNA library construction, hybridization capture, quantification, and sequencing. We then detail procedures for mapping sequence reads and population genetics analysis. This protocol also outlines challenges in extracting ancient DNA samples and authenticating ancient DNA to uncover the genetic history and diversity of ancient populations. For complete details on the use and execution of this protocol, please refer to Tao et al.1.
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  • 文章类型: Journal Article
    Smiliogastrinae因其高营养和观赏价值而闻名。在这项研究中,我们采用高通量测序技术获得了Dawkinsiafilamentosa和Pethianigrofasciata的完整线粒体基因组序列。这些物种的基因组成和排列顺序与典型脊椎动物相似,包含13个蛋白质编码基因,22个tRNA基因,2个rRNA基因,和1个非编码区。丝裂原和黑斑原的线粒体基因组测量为16,598和16,948bp,分别。丝状D.和黑质P.nigrofasciata均表现出对AT碱基的显着偏好和抗G偏见。值得注意的是,ND6基因的AT和GC偏斜值波动明显,这表明该基因的选择和突变压力可能与影响其他基因的压力不同。系统发育分析,基于23种鲤科鱼类的完整线粒体基因组,发现丝状D.与Dawkinsiadenisonii和Sahyadriachalakkudiensis的姐妹群体密切相关。同样,黑质链球菌与Pethiaticto和Pethiastoliczkana组成姐妹组。
    Smiliogastrinae are recognized for their high nutritional and ornamental value. In this study, we employed high-throughput sequencing technology to acquire the complete mitochondrial genome sequences of Dawkinsia filamentosa and Pethia nigrofasciata. The gene composition and arrangement order in these species were similar to those of typical vertebrates, comprising 13 protein-coding genes, 22 tRNA genes, 2 rRNA genes, and 1 non-coding region. The mitochondrial genomes of D. filamentosa and P. nigrofasciata measure 16,598 and 16,948 bp, respectively. Both D. filamentosa and P. nigrofasciata exhibit a significant preference for AT bases and an anti-G bias. Notably, the AT and GC skew values of the ND6 gene fluctuated markedly, suggesting that the selection and mutation pressures on this gene may differ from those affecting other genes. Phylogenetic analysis, based on the complete mitochondrial genomes of 23 Cyprinidae fishes, revealed that D. filamentosa is closely related to the sister group comprising Dawkinsia denisonii and Sahyadria chalakkudiensis. Similarly, P. nigrofasciata forms a sister group with Pethia ticto and Pethia stoliczkana.
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  • 文章类型: Journal Article
    背景:晚发性阿尔茨海默病(LOAD)具有很强的遗传成分。长寿家庭研究(LLFS)的参与者表现出痴呆症的延迟发作,提供了一个独特的机会来研究负载遗传学。
    方法:我们对3475个LLFS成员进行了全基因组序列分析。在六项独立研究(N=14,260)中检查了遗传关联,具有广泛的LOAD风险。在LLFS组(N=1739)的子样本中的关联分析评估了LOAD变体与β淀粉样蛋白(Aβ)水平的关联。
    结果:我们在与LOAD相关的MTUS2基因中发现了几个处于紧密连锁不平衡状态的单核苷酸多态性(SNP)(rs73154407,p=7.6×10-9)。在五项独立研究中观察到MTUS2变体与LOAD的关联,并且与较低淀粉样蛋白相比,在高水平的Aβ42/40比率内显著更强。
    结论:MTUS2编码一种与神经系统发育和功能有关的微管相关蛋白,使其成为研究负载生物学的合理候选人。
    结论:长寿家庭研究(LLFS)家庭可能存在迟发性阿尔茨海默氏痴呆(LOAD)变异。LLFS全基因组序列分析鉴定了与LOAD相关的MTUS2基因变体。观察到的LLFS变体推广到具有广泛的LOAD风险的队列。在高水平的β淀粉样蛋白中,MTUS2与LOAD的关联更强。我们的结果为MTUS2基因作为新的LOAD候选基因座提供了证据。
    Late-onset Alzheimer\'s disease (LOAD) has a strong genetic component. Participants in Long-Life Family Study (LLFS) exhibit delayed onset of dementia, offering a unique opportunity to investigate LOAD genetics.
    We conducted a whole genome sequence analysis of 3475 LLFS members. Genetic associations were examined in six independent studies (N = 14,260) with a wide range of LOAD risk. Association analysis in a sub-sample of the LLFS cohort (N = 1739) evaluated the association of LOAD variants with beta amyloid (Aβ) levels.
    We identified several single nucleotide polymorphisms (SNPs) in tight linkage disequilibrium within the MTUS2 gene associated with LOAD (rs73154407, p = 7.6 × 10-9). Association of MTUS2 variants with LOAD was observed in the five independent studies and was significantly stronger within high levels of Aβ42/40 ratio compared to lower amyloid.
    MTUS2 encodes a microtubule associated protein implicated in the development and function of the nervous system, making it a plausible candidate to investigate LOAD biology.
    Long-Life Family Study (LLFS) families may harbor late onset Alzheimer\'s dementia (LOAD) variants. LLFS whole genome sequence analysis identified MTUS2 gene variants associated with LOAD. The observed LLFS variants generalized to cohorts with wide range of LOAD risk. The association of MTUS2 with LOAD was stronger within high levels of beta amyloid. Our results provide evidence for MTUS2 gene as a novel LOAD candidate locus.
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  • 文章类型: Journal Article
    背景:这项研究,在瑞典人口队列中进行,探索如何内在化(抑郁和功能性躯体化)和外在化(吸烟,饮酒,逃学,故意破坏,犯罪)心理健康症状,以及青春期期间报告的密切人际关系(家庭氛围和学校联系),影响到中年后期的工作生活过程。
    方法:我们使用序列分析检查了16至56岁劳动力市场状况的重复测量。我们确定了五种不同的劳动力市场依恋(LMA16-56)轨迹,即\'强,\'\'早期中间,\'\'早弱,\'\'后期弱,\'和\'不断弱。\'多项逻辑回归被用来将九个决定因素中的每一个与所识别的轨迹相关联。
    结果:当与\'强\'LMA16-56的风险相比时,在所有条件下的逆境,除了故意破坏,带来了更高的“不断疲软”轨迹的风险。此外,所有条件,除了功能性躯体症状,LMA16-56的风险更高。在所有情况下,“早期中间”LMA16-56的风险都不显著。
    结论:本研究通过对劳动力市场依恋的新颖探索以及近端人际关系在依恋结果中的重要性的揭示,为现有知识做出了贡献。此外,这项研究重申了行为外化的重要性,虽然暗示青春期的内在化症状可能影响较小,虽然不可忽视,作用。这些结果强调了在义务基础教育期间解决行为和培养人际关系的重要性,当整个年龄组仍然可以到达时。这种方法不仅旨在减少从学校到工作的过渡中的摩擦,而且还旨在防止因干预延迟而可能出现的中年劳动力市场依恋问题。
    This study, conducted on a Swedish population cohort, explores how internalized (depressive and functional somatic) and externalized (smoking, drinking, truancy, vandalism, delinquency) mental health symptoms, as well as close interpersonal relations (family climate and school connectedness) reported during adolescence, influence the work-life course up to late midlife.
    We examined repeated measurements of labour market status from age 16 to 56 using sequence analyses. We identified five different labour market attachment (LMA16-56) trajectories, namely \'strong,\' \'early intermediate,\' \'early weak,\' \'late weak,\' and \'constantly weak.\' Multinomial logistic regressions were employed to relate each of the nine determinants to the identified trajectories.
    When compared to the risk of \'strong\' LMA16-56, adversity in all conditions, except for vandalism, entailed a higher risk of the \'constantly weak\' trajectory. Moreover, all conditions, except for functional somatic symptoms, entailed a higher risk of the \'late weak\' LMA16-56. The risk of the \'early intermediate\' LMA16-56 was non-significant across all the conditions.
    This study contributes to existing knowledge through its novel exploration of labour market attachment and the revelation of the significance of proximal interpersonal relationships in attachment outcomes. Additionally, the study reaffirms the importance of externalizing behaviour, while suggesting that internalized symptoms in adolescence might have a less influential, though not negligible, role. These results underscore the importance of addressing acting out behaviour and nurturing human relationships during compulsory basic education, when the entire age group is still within reach. This approach aims not only to reduce frictions in the school-to-work transition but also to prevent midlife labour market attachment problems that may arise with delayed intervention.
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  • 文章类型: Journal Article
    背景:本研究旨在描述在德国获得批准的职业康复者中职业康复服务的顺序,并确定典型的服务顺序。
    方法:我们使用了有关职业康复服务的行政数据以及有关健康和工作能力的问卷调查数据来描述由联邦德国养老保险资助的职业康复服务的频率和顺序。通过序列分析,我们能够绘制服务序列。我们进行了聚类分析,以确定典型的不同服务序列。
    结果:我们的样本包括1,652名个人和2,584项服务。融合服务和两年职业再培训是最常见的服务。我们可以围绕集成服务确定三个不同的服务集群:较短的服务集群,其次是雇主福利,没有雇主福利。我们在为期两年的职业再培训中发现了两个不同的集群:较短和较长的集群。两年的职业再培训通常由预备服务机构发起,其次是雇主福利,而不是融合服务。两个集群中更长的服务与更好的身体健康基准数据相关,工作能力,未来工作残疾的风险,和年龄较短的服务。接受两年职业再培训的人报告基线时总体健康状况更好,更好的工作能力,未来工作残疾的风险低,与一体化服务人员相比,精神疾病较少。
    结论:多种服务,也就是说,服务序列,更有可能发生在具有更复杂服务的个人中,例如两年的职业再培训。复杂服务和长期服务的利用受到健康、年龄,未来工作残疾的风险,和教育。
    背景:德国临床试验注册DRKS00009910,注册25/01/2016。
    BACKGROUND: This study aimed to describe sequences of vocational rehabilitation services among individuals with approved vocational rehabilitation in Germany and to identify typical service sequences.
    METHODS: We used administrative data on vocational rehabilitation services and questionnaire data on health and work ability to describe frequencies and sequences of vocational rehabilitation services financed by the Federal German Pension Insurance. Through sequence analysis, we were able to map the service sequences. We did cluster analyses to identify typical different service sequences.
    RESULTS: Our sample included 1,652 individuals with 2,584 services. Integration services and two-year vocational retraining were the most common services. We could identify three different service clusters around integration services: shorter ones, followed by employer benefits and without employer benefits. We found two different clusters around two-year vocational retraining: shorter and longer clusters. Two-year vocational retraining was more often initiated by preparatory services and followed by employer benefits than integration services. Longer services in both clusters were associated with better baseline data for physical health, work ability, risk of future work disability, and younger age than shorter services. People in two-year-vocational retraining reported at baseline better general health, better work ability, low risk of future work disability, and less mental illness compared to people in integration services.
    CONCLUSIONS: Multiple services, that is, sequences of services, were more likely to occur among individuals with more complex services like two-year vocational retraining. Utilization of complex services and longer services was influenced by health, age, risk of future work disability, and education.
    BACKGROUND: German Clinical Trials Register DRKS00009910, registration 25/01/2016.
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