临床与医学基因组学杂志 | 7

<!doctype html> <html lang="zh"> <head> <meta charset="utf-8"> <meta name="viewport" content="width=device-width, initial-scale=1, shrink-to-fit=no"> <title>临床与医学基因组学杂志 | 7 | 2019</title> <meta name="keywords" content="临床与医学基因组学杂志 journal articles, 7 | 2019"/> <meta name="description" content="临床与医学基因组学杂志, 7 | 2019."/>  <link rel="alternate" href="https://chinese.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" hreflang="zh-CN"/> <link rel="canonical" href="https://chinese.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html"> <meta name="google-site-verification" content="oWMEafdcaiOzLHBHrMgGBwtQrvUtl_diAl2cELZt1Ks" /> <meta name="ROBOTS" content="INDEX,FOLLOW"> <meta name="googlebot" content="INDEX,FOLLOW"> <link rel="stylesheet" href="https://stackpath.bootstrapcdn.com/bootstrap/4.4.1/css/bootstrap.min.css"> <link rel="stylesheet" href="https://cdnjs.cloudflare.com/ajax/libs/font-awesome/5.11.2/css/all.min.css" /> <link rel="stylesheet" href="https://maxcdn.bootstrapcdn.com/font-awesome/4.3.0/css/font-awesome.min.css"> <link href="https://fonts.googleapis.com/icon?family=Material+Icons" rel="stylesheet"> <link href="https://fonts.googleapis.com/css?family=Roboto:100,100i,300,300i,400,400i,500,500i,700,700i,900,900i&display=swap" rel="stylesheet">  <link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap-select@1.13.9/dist/css/bootstrap-select.min.css"> <link rel="stylesheet" href="/assets/css/owl.carousel.min.css"> <link rel="stylesheet" href="/assets/css/owl.theme.default.min.css"> <link rel="stylesheet" href="/assets/css/jquery.mCustomScrollbar.min.css"> <link rel="stylesheet" href="/assets/css/global.css"> <link rel="stylesheet" href="/assets/css/styles.css"> <link rel="stylesheet" href="/assets/css/custom.css"> <link rel="stylesheet" href="/assets/css/author.css"> <link rel="stylesheet" href="/assets/css/coolautosuggest.css"> <link rel="icon" href="/assets/img/favicon.ico" type="image/gif" sizes="16x16">  <script async src="https://www.googletagmanager.com/gtag/js?id=UA-156021785-1"></script> <script> window.dataLayer = window.dataLayer || []; function gtag(){dataLayer.push(arguments);} gtag('js', new Date()); gtag('config', 'G-Q1QJ7079T4'); </script></head> <body> <nav class="navbar navbar-expand-lg navbar-light bg-light py-3"> <div class="container"> <a class="navbar-brand d-smd-none" href="https://chinese.hilarispublisher.com/" title="点击这里"><img src="/assets/img/hilaris-publisher.svg" alt=".." title="点击这里" height="40px"></a> <button class="navbar-toggler" type="button" data-toggle="collapse" data-target="#navbarJrnlMain" aria-controls="navbarJrnlMain" aria-expanded="false" aria-label="Toggle navigation"> <span class="navbar-toggler-icon"></span> </button> <div class="collapse navbar-collapse" id="navbarJrnlMain"> <div class="navbar-nav mr-auto"> <a class="nav-item nav-link" href="https://chinese.hilarispublisher.com/" title="点击这里">家</a> <a class="nav-item nav-link" href="https://chinese.hilarispublisher.com/open-access-journals.html" title="点击这里">期刊</a> <div class="nav-item dropdown"> <a class="nav-link dropdown-toggle" href="#" id="Guidelines" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">指导方针和政策 </a> <div class="dropdown-menu" aria-labelledby="Guidelines"> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/editorial-policies.html" title="Editorial Policies">编辑政策</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/submit-manuscript.html" title="Online Submission">网上提交</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/manuscript-guidelines.html" title="Manuscript Guidelines">稿件指南</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/policies.html" title="Policies">政策</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/publication-ethics.html" title="Publication ethics">出版道德</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/reviewers.html" title="Reviewers">审稿人</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/terms-conditions.html" title="Terms and Conditions">条款和条件</a> </div> </div> <div class="nav-item dropdown"> <a class="nav-link dropdown-toggle" href="#" id="Services" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">服务 </a> <div class="dropdown-menu" aria-labelledby="Services"> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/advertisement.html" title="Advertisement">广告</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/membership.html" title="Membership">会员资格</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/reprints.html" title="Reprints">转载</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/subscription.html" title="Subscription"> 订阅</a> </div> </div>  <a class="nav-item nav-link" href="https://chinese.hilarispublisher.com/conferences.html" title="Conferences">会议</a> <a class="nav-item nav-link" href="https://chinese.hilarispublisher.com/contact-us.html" title="Contact">联系我们</a> </div>  </div> </div> </nav> <nav class="navbar navbar-expand-lg navbar-dark bg-primary p-0 mb-3 nav-links-mobile-view"> <div class="container mx-3 mx-sm-auto"> <a class="navbar-brand d-block d-sm-none" href="#">期刊菜单</a> <button class="navbar-toggler" type="button" data-toggle="collapse" data-target="#navbarJrnl" aria-controls="navbarJrnl" aria-expanded="false" aria-label="Toggle navigation"> <span class="navbar-toggler-icon"></span> </button> <div class="collapse navbar-collapse" id="navbarJrnl"> <div class="navbar-nav mr-auto"> <a class="nav-item nav-link" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics.html" title="Journal Home"><i class="fas fa-home pr-2"></i> 杂志</a> <div class="nav-item dropdown"> <a class="nav-link dropdown-toggle " href="#" id="EditorialPanel" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">作者须知</a> <div class="dropdown-menu" aria-labelledby="EditorialPanel"> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/instructionsforauthors.html" title="点击这里">作者须知</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/aim-and-scope.html" title="点击这里">目标和范围</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/ethical-malpractices.html" title="点击这里">出版道德与不当行为声明</a> <a class="dropdown-item" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/peer-review-process.html" title="点击这里">同行评审流程</a> </div> </div> <a class="nav-link " href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/submit-manuscript.html" title="点击这里">提交稿件</a> <a class="nav-link " href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/archive.html" title="点击这里">档案</a> <a class="nav-link " href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/guidelines.html" title="点击这里">指南</a> <a class="nav-item nav-link" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/contact.html" title="点击这里">接触</a> </div> </div> </div> </nav> <header class="container py-3"> <div class="row align-items-start"> <div class="col-lg-1 col-md-1 d-none d-sm-block"> <img src="https://www.hilarispublisher.com/admin/flyers/Journal-of-Clinical--Medical-Genomics-flyer.jpg" alt=".." title="点击这里" class="img-fluid"> </div> <div class="col-lg col-md"> <h1 class="h2 text-primary">临床与医学基因组学杂志</h1> <div class="row"> <div class="col"> <p class="mb-1">国际标准期刊号: 2472-128X </p> </div> <div class="col"> 开放获取 </div> <div class="nav-item dropdown multi_lang j_multi_lang"> <a class="nav-link dropdown-toggle" href="#" id="multi_lang" role="button" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">Language</a> <div class="dropdown-menu" aria-labelledby=""> <a class="dropdown-item" href="https://www.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="English"> <img src="https://www.hilarispublisher.com/admin/flags/usa.png">English </a> <a class="dropdown-item" href="https://spanish.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Spanish"> <img src="https://www.hilarispublisher.com/admin/flags/spain.png">Spanish </a> <a class="dropdown-item" href="https://russian.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Russian"> <img src="https://www.hilarispublisher.com/admin/flags/russia.png">Russian </a> <a class="dropdown-item" href="https://german.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="German"> <img src="https://www.hilarispublisher.com/admin/flags/germany.png">German </a> <a class="dropdown-item" href="https://french.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="French"> <img src="https://www.hilarispublisher.com/admin/flags/france.png">French </a> <a class="dropdown-item" href="https://japanese.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Japanese"> <img src="https://www.hilarispublisher.com/admin/flags/japan.png">Japanese </a> <a class="dropdown-item" href="https://portuguese.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Portuguese"> <img src="https://www.hilarispublisher.com/admin/flags/portugal.png">Portuguese </a> <a class="dropdown-item" href="https://hindi.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Hindi"> <img src="https://www.hilarispublisher.com/admin/flags/india.png">Hindi </a> <a class="dropdown-item" href="https://telugu.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Telugu"> <img src="https://www.hilarispublisher.com/admin/flags/india.png">Telugu </a> <a class="dropdown-item" href="https://tamil.hilarispublisher.com/archive/jcmg-volume-7-issue-1-year-2019.html" title="Tamil"> <img src="https://www.hilarispublisher.com/admin/flags/india.png">Tamil </a> </div> </div> </div> </div> <div class="col-lg-3 col-md-4"> <div class="card bg-amber-400 border-0"> <div class="card-body p-2 d-flex align-items-center"> 提交稿件 <a class="animate-icon mx-3 stretched-link" href="https://www.scholarscentral.org/submissions/clinical-medical-genomics.html" title="点击这里" target="_blank"> <span target="_blank" class="animate-icon-horizontal"> <i class="material-icons animate-icon-horizontal-wrap animate-icon-left-to-right">arrow_forward</i> <i class="material-icons animate-icon-horizontal-wrap animate-icon-left-to-right">arrow_forward</i> </span> </a> <img src="/assets/img/manuscript.svg" alt=".." width="50"> </div> </div> <div class="mt-2 cu_whatsapp"> </div> </div> </div> </header> <section class="container"> <div class="row"> <div class="col-sm"> <h2 class="text-primary font-size-6 my-3 border-bottom-2 border-yellow-900 pb-2">体积 7, 问题 1 (2019)</h2> <div class="border-bottom-1 py-2"> <div class="d-flex w-100 justify-content-between mb-1"> <span class="align-self-center"> 研究文章 </span> </div> <h3 class="mb-2 font-size-4"><a href="https://chinese.hilarispublisher.com/abstract/three-novel-emcyp1b1em-mutations-pl480p-ps476p-pr175p-in-primary-congenital-glaucoma-cases-residing-in-eastern-iran-25034.html" title="Three Novel <em>CYP1B1</em> Mutations (p.L480P, p.S476P, p.R175P) in Primary Congenital Glaucoma Cases Residing in Eastern Iran">Three Novel <em>CYP1B1</em> Mutations (p.L480P, p.S476P, p.R175P) in Primary Congenital Glaucoma Cases Residing in Eastern Iran</a></h3> <p class="mb-2 font-size-3 text-muted"> <i class="fas fa-user"></i> Fatemeh Arab, Esmat Rigi Yousefabadi, Ramin Daneshvar and Ehsan Ghayoor Karimiani </p> <div class="row justify-content-between align-items-center"> <div class="col pl-0"> <a class="btn btn-link" data-toggle="collapse" href="#collapseAbstract136295" role="button" aria-expanded="false" aria-controls="collapseAbstract"> 抽象的 </a> </div> <div class="col-sm-auto"> <nav class="nav a-mx-2"> <a href="https://chinese.hilarispublisher.com/abstract/three-novel-emcyp1b1em-mutations-pl480p-ps476p-pr175p-in-primary-congenital-glaucoma-cases-residing-in-eastern-iran-25034.html" title="点击这里" class="card-link border-bottom-2 yellow-900 border-yellow-900"><i class="fas fa-file-alt fa-lg"></i> 抽象的</a> </nav> </div> </div> <div class="collapse" id="collapseAbstract136295"> <div class="card card-body p-2 bg-light"><p><strong>Background purpose</strong>: Primary Congenital Glaucoma (PCG) is typically an autosomal recessive trait and is more prevalent in community with consanguineous marriage. The aim of current study was to screen 27 familial cases of PCG for <em>CYP1B1</em>, to identify and determine common mutations, and to understand its penetrance and prevalence in the Eastern provinces of Iran.</p> <p><strong>Methods</strong>: Detailed family histories up to three generations were taken, and pedigree charts were constructed. Genomic DNA was extracted from peripheral leukocytes. Primers were designed for the two coding exons of the <em>CYP1B1</em> gene and the amplified products were sequenced. PolyPhen and SIFT were used to predict the functional impact of novel mutations identified in this study.</p> <p><strong>Results</strong>: Seventeen of 27 subjects (62.96%) had mutations in the <em>CYP1B1</em> gene. In this study, 10 specific mutations associated with disease phenotypes were found. Six missense (p. R368H, p.E229K, p.R390C, p.V364M, p.F445I, p.G61E) and one deletion mutation (c.1504_1504delA) were previously reported and 3 missense mutations (p.L480p, p.S476P and p.R175P) were novel. The most common mutation was G61E, which was identified in 8 of 17 cases (47.05%). We also notified that one of the patients was homozygous for the mutation E229K, and also R390C (tetra-allelic).</p> <p><strong>Conclusion</strong>: Mutations in <em>CYP1B1</em> was a major finding in our PCG patients. Identifying mutations in subjects at risk of developing glaucoma, particularly among relatives of PCG patients, is of clinical relevance. These findings may help in reducing the disease frequency in familial cases through proper counseling. Such studies will be of benefit in the identification of pathogenic mutations in different populations and will enable us to develop simple and rapid diagnostic tests for analyzing such cases.</p></div> </div> </div> <div class="border-bottom-1 py-2"> <div class="d-flex w-100 justify-content-between mb-1"> <span class="align-self-center"> 研究文章 </span> </div> <h3 class="mb-2 font-size-4"><a href="https://chinese.hilarispublisher.com/abstract/relationship-between-human-papillomavirus-and-tumor-markers-expression-among-women-in-two-tertiary-hospitals-in-bayelsa--25006.html" title="Relationship between Human Papillomavirus and Tumor Markers Expression among Women in Two Tertiary Hospitals in Bayelsa State, Nigeria">Relationship between Human Papillomavirus and Tumor Markers Expression among Women in Two Tertiary Hospitals in Bayelsa State, Nigeria</a></h3> <p class="mb-2 font-size-3 text-muted"> <i class="fas fa-user"></i> Oboma YI, Ngokere AA and Elesha SO </p> <div class="row justify-content-between align-items-center"> <div class="col pl-0"> <a class="btn btn-link" data-toggle="collapse" href="#collapseAbstract136269" role="button" aria-expanded="false" aria-controls="collapseAbstract"> 抽象的 </a> </div> <div class="col-sm-auto"> <nav class="nav a-mx-2"> <a href="https://chinese.hilarispublisher.com/abstract/relationship-between-human-papillomavirus-and-tumor-markers-expression-among-women-in-two-tertiary-hospitals-in-bayelsa--25006.html" title="点击这里" class="card-link border-bottom-2 yellow-900 border-yellow-900"><i class="fas fa-file-alt fa-lg"></i> 抽象的</a> </nav> </div> </div> <div class="collapse" id="collapseAbstract136269"> <div class="card card-body p-2 bg-light"><p style="text-align: justify;">Cervical Human Papillomavirus (HPV) infection in sub-Saharan Africa is among the highest in the world. HPV early proteins (E6 and E7) cause inhibition of p53 and Rb proteins respectively which are important for cell transformation. The HPV screening can be achieve using various methods like polymerase chain reaction, immunohistochemistry/ immunocytochemistry and Hybrid Capture 1/2. This study aimed at evaluating the effectiveness of some tumor markers in detecting cervical human Papillomavirus in HPV positive confirmed tissues by PCR. Fifty cervical tissue samples were subjected to nested polymerase chain reaction technique for the detection of HPV and immunohistochemistry method was used to localized and identify p53, p16 and Ki-67 antibodies. Result revealed 35(70%) expression for p16, 34(68%) for Ki-67 and 32(64%) for p53 marker in the tissue blocks studied. Nondysplastic cases expressed 62% for p16, 25% and 75% for Ki-67 and p53 respectively. Squamous Cell Carcinoma (SCC) and adenocarcinoma of the cervix showed 100 % expression for p16 gene, followed by p53 (91.6%) and Ki-67 (83.3%). Relationship between immunohistochemistry markers expression and cervical HPV using PCR was studied. Data obtained showed a 100% expression for p16, 53.8 % for Ki-67 and 30.8% for p53 tumor markers in all the HPV positive cases. HPV negative cases presented 59.5%, 67.6% and 81.7% expression for p16, Ki-67 and p53 respectively. All HPV positive cases showed statistically significant increase expression for p16 tumor marker compared with Ki-67 (P<0.001*OR=23.40) and p53 (P<0.001**, OR=41.73). These findings could be linked to retinoblastoma involvement in HPV infection which is the principle behind p16 staining reaction and therefore concluded that all HPV positive cases are p16 positive but not all p16 positive are HPV positive. We recommend p16 tumor marker as complementary test for HPV screening in poor resource centers.</p></div> </div> </div> <div class="border-bottom-1 py-2"> <div class="d-flex w-100 justify-content-between mb-1"> <span class="align-self-center"> 研究文章 </span> </div> <h3 class="mb-2 font-size-4"><a href="https://chinese.hilarispublisher.com/abstract/hypomelanosis-of-ito-and-emde-novoem-interstitial-15q112q133-triplication-in-bulgarian-family-24979.html" title="Hypomelanosis of Ito and <em>De novo</em> Interstitial 15q11.2q13.3 Triplication in Bulgarian Family">Hypomelanosis of Ito and <em>De novo</em> Interstitial 15q11.2q13.3 Triplication in Bulgarian Family</a></h3> <p class="mb-2 font-size-3 text-muted"> <i class="fas fa-user"></i> Mladenova M, Koleva M, Rodopska E, Alexandrova I, Bojinova V, Plaseska-Karanfilska D, Bozinovski G, Todorova A and Mitev V </p> <div class="row justify-content-between align-items-center"> <div class="col pl-0"> <a class="btn btn-link" data-toggle="collapse" href="#collapseAbstract136245" role="button" aria-expanded="false" aria-controls="collapseAbstract"> 抽象的 </a> </div> <div class="col-sm-auto"> <nav class="nav a-mx-2"> <a href="https://chinese.hilarispublisher.com/abstract/hypomelanosis-of-ito-and-emde-novoem-interstitial-15q112q133-triplication-in-bulgarian-family-24979.html" title="点击这里" class="card-link border-bottom-2 yellow-900 border-yellow-900"><i class="fas fa-file-alt fa-lg"></i> 抽象的</a> </nav> </div> </div> <div class="collapse" id="collapseAbstract136245"> <div class="card card-body p-2 bg-light"><p style="text-align: justify;">Here we report a case of Hypomelanosis of Ito (HI) and de novo interstitial 15q11.2q13.3 triplication. The HI is typically associated with various chromosomal anomalies, that is why a karyotyping was selected as a first choice in genetic approach. The obtained result showed a pathological karyotype: additional material on the long arm of chromosome 15,(15)(q11q13) bands. To confirm this extra material on the long arm of chromosome 15, our subsequent step was Multiplex Ligation-dependent Probe Amplification analysis (MLPA), which detected abnormal copy numbers, corresponding to duplication, along the targeted region 15q11.2 (genes SNRPN and UBE3A). In order to further clarify the duplication boundaries the aCGH was performed, which revealed arr[GRCh37] 15q1 1.2q13.3(22,558,697-30,366,124)x4, 15q13.2q13.3(30,652,489-32,462,701)x3. As a final step we conducted segregation analysis within the family by QF-PCR of polymorphic loci to identify the origin of the chromosomal rearrangement, which turned out to be maternally inherited. Based on the results from aCGH, in our opinion the reported here chromosomal rearrangement is an interstitial triplication of chromosome 15, resulting in very rare case of tetrasomy within the targeted region of chromosome 15q. Review of the literature showed that, here we report a first genetically proven case of Hypomelanosis of Ito caused by a de novo interstitial 15q11.2q13.3 triplication.</p></div> </div> </div> </div> <div class="col-12 col-sm-3">  <div class="mb-3"> <h4>期刊亮点</h4> <nav class="nav flex-column scrollbar a-pl-0" style="max-height:50vh;"> <a href="https://chinese.hilarispublisher.com/scholarly/personalized-medical-research-journals-articles-ppts-list-506.html" class="nav-link" title="个性化医学研究" title="点击这里"><i class="far fa-hand-point-right"></i> 个性化医学研究</a> <a href="https://chinese.hilarispublisher.com/scholarly/personised-genomics-journals-articles-ppts-list-517.html" class="nav-link" title="个性化基因组学" title="点击这里"><i class="far fa-hand-point-right"></i> 个性化基因组学</a> <a href="https://chinese.hilarispublisher.com/scholarly/medical-genomics--journals-articles-ppts-list-478.html" class="nav-link" title="医学基因组学" title="点击这里"><i class="far fa-hand-point-right"></i> 医学基因组学</a> <a href="https://chinese.hilarispublisher.com/scholarly/genetic-engineering-journals-articles-ppts-list-490.html" class="nav-link" title="基因工程" title="点击这里"><i class="far fa-hand-point-right"></i> 基因工程</a> <a href="https://chinese.hilarispublisher.com/scholarly/clinical-research-in-genome--journals-articles-ppts-list-482.html" class="nav-link" title="基因组临床研究" title="点击这里"><i class="far fa-hand-point-right"></i> 基因组临床研究</a> <a href="https://chinese.hilarispublisher.com/scholarly/biomarkers-in-genomic-medicine-journals-articles-ppts-list-495.html" class="nav-link" title="基因组医学中的生物标志物" title="点击这里"><i class="far fa-hand-point-right"></i> 基因组医学中的生物标志物</a> <a href="https://chinese.hilarispublisher.com/scholarly/genomic-sequencing-journals-articles-ppts-list-519.html" class="nav-link" title="基因组测序" title="点击这里"><i class="far fa-hand-point-right"></i> 基因组测序</a> <a href="https://chinese.hilarispublisher.com/scholarly/cancer-genomics-journals-articles-ppts-list-515.html" class="nav-link" title="癌症基因组学" title="点击这里"><i class="far fa-hand-point-right"></i> 癌症基因组学</a> <a href="https://chinese.hilarispublisher.com/scholarly/genetics-and-genomic-medicine--journals-articles-ppts-list-503.html" class="nav-link" title="遗传学和基因组医学" title="点击这里"><i class="far fa-hand-point-right"></i> 遗传学和基因组医学</a> <a href="https://chinese.hilarispublisher.com/scholarly/genetic-heart-disease-journals-articles-ppts-list-481.html" class="nav-link" title="遗传性心脏病" title="点击这里"><i class="far fa-hand-point-right"></i> 遗传性心脏病</a> <a href="https://chinese.hilarispublisher.com/scholarly/genetic-diabetic-disorder--journals-articles-ppts-list-479.html" class="nav-link" title="遗传性糖尿病" title="点击这里"><i class="far fa-hand-point-right"></i> 遗传性糖尿病</a> <a href="https://chinese.hilarispublisher.com/scholarly/genetic-diseases-journals-articles-ppts-list-484.html" class="nav-link" title="遗传病" title="点击这里"><i class="far fa-hand-point-right"></i> 遗传病</a> <a href="https://chinese.hilarispublisher.com/scholarly/clinical-trial-for-genetic-disease--journals-articles-ppts-list-480.html" class="nav-link" title="遗传病临床试验" title="点击这里"><i class="far fa-hand-point-right"></i> 遗传病临床试验</a> </nav> </div>  <div class="mb-3"> <h4>索引于</h4> <nav class="nav flex-column scrollbar a-pl-0" style="max-height:40vh;"> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> CAS 来源索引 (CASSI)<br> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> 谷歌学术<br> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> 打开 J 门<br> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> 参考搜索<br> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> 哈姆达大学<br> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> 亚利桑那州EBSCO<br> <i class="fa fa-chevron-right" style="font-size: 11px;color: #0056b3;"></i> 普布隆斯<br> </nav> </div>  <div class=" mb-3"> <h4>相关链接</h4> <div class="card-body p-0"> <nav class="nav flex-column font-size-4 a-py-1"> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/indexing.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">摘要和索引</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/clinical-and-medical-genomics/archive.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">目录</span></a> </nav> </div> </div>  <div class=" mb-3"> <h4>开放获取期刊</h4> <div class="card-body p-0"> <nav class="nav flex-column font-size-4 a-py-1"> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/clinical-sciences-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">临床科学</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/immunology-and-microbiology-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">免疫学与微生物学</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/pharmaceutical-sciences-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">制药科学</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/medical-sciences-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">医学科学</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/business-and-management-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">商业管理</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/engineering-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">工程</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/neuroscience-and-psychology-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">神经科学与心理学</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/science-and-technology-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">科学技术</span></a> <a class="nav-item nav-link p-0" href="https://chinese.hilarispublisher.com/genetics-and-molecular-biology-journals.html" title="点击这里"><span><i class="far fa-hand-point-right"></i></span><span class="cu_posion">遗传学与分子生物学</span></a> </nav> </div> </div> <script src="https://ajax.googleapis.com/ajax/libs/jquery/3.4.1/jquery.min.js"></script> <script type="text/javascript"> $(window).scroll(function() { var scroll = $(window).scrollTop(); if (scroll >= 1000) { $(".Information").addClass("Informationstic").fadeIn(1000); } else{ $(".Information").removeClass("Informationstic").fadeIn(1000); } }); </script> </div> </div> </section> <footer class="container-fluid bg-grey-300 border-top-1"> <div class="row py-3"> <div class="col-sm"> <h5 class="fweight-600">类别</h5> <nav class="nav row a-py-2"> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/clinical-sciences-journals.html" title="临床科学">临床科学</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/immunology-and-microbiology-journals.html" title="免疫学与微生物学">免疫学与微生物学</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/pharmaceutical-sciences-journals.html" title="制药科学">制药科学</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/medical-sciences-journals.html" title="医学科学">医学科学</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/business-and-management-journals.html" title="商业管理">商业管理</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/engineering-journals.html" title="工程">工程</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/neuroscience-and-psychology-journals.html" title="神经科学与心理学">神经科学与心理学</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/science-and-technology-journals.html" title="科学技术">科学技术</a> <a class="nav-link col-sm-6" href="https://chinese.hilarispublisher.com/genetics-and-molecular-biology-journals.html" title="遗传学与分子生物学">遗传学与分子生物学</a> </nav> </div> <div class="col-sm-3 border-left-1"> <h5 class="fweight-600">指南</h5> <ul class="list-unstyled mb-0 a-py-2"> <li><a href="https://chinese.hilarispublisher.com/manuscript-guidelines.html" title="点击这里">作者指南</a></li> <li><a href="https://chinese.hilarispublisher.com/editor-guidelines.html" title="点击这里">编辑指南</a></li> <li><a href="https://chinese.hilarispublisher.com/reviewer-guidelines.html" title="点击这里">审稿人指南</a></li> </ul> </div> <div class="col-sm-2 border-left-1"> <h5 class="fweight-600">关于希拉里斯</h5> <ul class="list-unstyled mb-0 a-py-2"> <li><a href="https://chinese.hilarispublisher.com/about-us.html" title="点击这里">关于我们</a></li> <li><a href="https://chinese.hilarispublisher.com/open-access.html" title="点击这里">开放获取</a></li> <li><a href="https://chinese.hilarispublisher.com/contact-us.html" title="点击这里">联系我们</a></li> <li><a href="https://chinese.hilarispublisher.com/terms-conditions.html" title="点击这里">条款</a></li> <li><a href="https://chinese.hilarispublisher.com/faq.html" title="点击这里">常见问题解筑</a></li> </ul> </div> <div class="col-sm-2 border-left-1"> <h5 class="fweight-600">跟着我们</h5> <ul class="list-unstyled mb-0 a-py-2 footer_social"> <li><a href="https://www.facebook.com/hilarispublisher/" title="点击这里" target="blank"><i class="fab fa-facebook-square"></i></a></li> <li><a href="https://twitter.com/hilarispublish2" title="点击这里" target="blank"><i class="fab fa-twitter-square"></i></a></li> <li><a href="https://www.linkedin.com/company/31133357/admin/" title="点击这里" target="blank"><i class="fab fa-linkedin"></i></a></li> <li><a href="https://www.instagram.com/hilaris_publisher/?hl=en" title="点击这里" target="blank"><i class="fa fa-instagram"></i></a></li> <li><a href="#" title="点击这里" target="blank"><i class="fab fa-youtube"></i></a></li> </ul> </div> </div>  <div class="row"> <div class="col-12"> <p class="border-top-1 pt-2 text-right">版权 © 2024 版权所有 <strong><a href="https://chinese.hilarispublisher.com/" title="Hilaris">希拉里斯有限公司</a></strong></p> </div> </div> </footer>  <a class="cd-top js-cd-top animate-icon" href="https://chinese.hilarispublisher.com/submit-manuscript.html" title="Scroll to Top"> <span target="_blank" class="animate-icon-vertical"> <i class="material-icons animate-icon-vertical-wrap animate-icon-bottom-to-top">arrow_upward</i> <i class="material-icons animate-icon-vertical-wrap animate-icon-bottom-to-top">arrow_upward</i> </span> </a>   <script src="https://code.jquery.com/jquery-3.3.1.min.js"></script> <script src="https://cdnjs.cloudflare.com/ajax/libs/popper.js/1.14.7/umd/popper.min.js"></script> <script src="https://stackpath.bootstrapcdn.com/bootstrap/4.3.1/js/bootstrap.min.js"></script> <script src="https://cdn.jsdelivr.net/npm/bootstrap-select@1.13.9/dist/js/bootstrap-select.min.js"></script> <script src="/assets/js/owl.carousel.min.js"></script> <script src="/assets/js/grids.min.js" type="text/javascript"></script> <script src="/assets/js/jquery.matchHeight-min.js" type="text/javascript"></script>  <script> jQuery(function($) { $(window).scroll(function fix_element() { $('#target').css( $(window).scrollTop() > 100 ? { 'position': 'fixed', 'top': '440px' } : { 'position': 'absolute', 'top': '440px' } ); return fix_element; }()); }); </script>   <script src="/assets/js/scroll-to-top.js"></script> <script type="text/javascript"> // Equal Height var EqualHeight = function() { "use strict"; // Handle Equal Height var handleEqualHeight = function() { $(function($) { var i; for (i = 0; i < 5; i++) { //alert(i); $('.equal-height-'+i).responsiveEqualHeightGrid(); } }); } return { init: function() { handleEqualHeight(); // initial setup for equal height } } }(); $(document).ready(function() { EqualHeight.init(); }); </script> <script> $(function() { $('.match-height').matchHeight({ byRow: true, property: 'height', target: null, }); }); </script> <script> $(document).ready(function() { $('.subject-carousel').owlCarousel({ margin: 20, rewind: true, dots: false, nav: true, autoplay: true, autoplayTimeout: 2000, autoplayHoverPause: true, responsive: { 0: { items: 1 }, 600: { items: 3 }, 1000: { items: 6 } } }) }); </script> <script> $('.eb-carousel').owlCarousel({ loop: true, margin: 20, dots: false, autoplay: true, autoplayTimeout: 2000, autoplayHoverPause: true, responsive: { 0: { items: 1 }, 600: { items: 3 }, 1000: { items: 4 } } }) </script> <script src="/assets/js/jquery.mCustomScrollbar.concat.min.js" type="text/javascript"></script> <script type="text/javascript"> // Scrollbar var Scrollbar = function() { "use strict"; // Handle Scrollbar Linear var handleScrollbarLinear = function() { $(".scrollbar").mCustomScrollbar({ theme: "minimal-dark" }); } return { init: function() { handleScrollbarLinear(); // initial setup for scrollbar linear } } }(); $(document).ready(function() { Scrollbar.init(); }); /*========================== Bootstrap Popover ============================*/ $(function () { $('[data-toggle="popover"]').popover() }) </script> <script src="/assets/js/jquery.malihu.PageScroll2id.min.js" type="text/javascript"></script> <script type="text/javascript">(function($){ $(window).on("load",function(){ $("a[rel='m_PageScroll2id']").mPageScroll2id(); }); })(jQuery); </script>  <script type="text/javascript" src="/assets/js/coolautosuggest.js"></script> <script language="javascript" type="text/javascript"> $("#keyword").coolautosuggest({ url: "https://chinese.hilarispublisher.com/author-names.php?chars=", minChars: 3, }); </script>  <script type="text/javascript"> $(document).ready(function() { $("#wait").hide(); $("#jkeyword").keyup(function() { $("#wait").show(); //values of sending variables var jkeyword=$("#jkeyword").val(); var dataString = { 'jkeyword':jkeyword }; $.ajax ({ type: "POST", url: "https://chinese.hilarispublisher.com/journal-search.php", data:dataString, cache: false, success: function(html) { $("#jresult").html(html); $("#wait").hide();} }); }); }); </script>  </body> </html>

CINXE.COM

临床与医学基因组学杂志 | 7 | 2019