標題: Titlebook: Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders; Lee-Jun C. Wong Book 2017 Springer International [打印本頁] 作者: 拐杖 時間: 2025-3-21 16:40
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders影響因子(影響力)
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders影響因子(影響力)學科排名
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書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders網(wǎng)絡公開度學科排名
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders被引頻次
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders被引頻次學科排名
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders年度引用
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders年度引用學科排名
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders讀者反饋
書目名稱Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders讀者反饋學科排名
作者: asthma 時間: 2025-3-21 21:36 作者: 愛得痛了 時間: 2025-3-22 03:17
Next Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders978-3-319-56418-0作者: 代理人 時間: 2025-3-22 05:58 作者: adulterant 時間: 2025-3-22 09:27 作者: GNAT 時間: 2025-3-22 13:25 作者: intellect 時間: 2025-3-22 19:45 作者: ATRIA 時間: 2025-3-22 23:07 作者: 揭穿真相 時間: 2025-3-23 02:56
Anastasia Fedick,Jinglan Zhangveyer belt system are coated with sacrificial liners of ceramics and rubbers to prolong the life of the conveyor system. However, such pulley liners are exposed to wear and even chemical reactions particularly in mining industries that are involved in transporting ores. The investigation will provid作者: Comedienne 時間: 2025-3-23 06:00 作者: epicardium 時間: 2025-3-23 10:56
te the selectivity. Meanwhile, the products must meet the ever stricter environmental or safety standards. A membrane separation system should consist of a membrane with stable and reliable performance. Therefore, the first objective of polymer membrane surface engineering is to enhance the surface 作者: myelography 時間: 2025-3-23 17:21 作者: 事先無準備 時間: 2025-3-23 18:10
Xinjian Wang Ph.D.,Lisa Dyer Ph.D.,Kejian Zhang M.D., MBA,John Greinwald Jr. M.D.,C. Alexander Valen作者: Visual-Field 時間: 2025-3-24 01:58 作者: inscribe 時間: 2025-3-24 06:01
Allison Tam,Victor Wei Zhang,Lee Jun Wong,Sandesh C. S. Nagamani MD作者: ARCHE 時間: 2025-3-24 09:39 作者: cultivated 時間: 2025-3-24 12:51
Hui Mei PhD,Hongzheng Dai,Jinglan Zhang,Lee-Jun Wong,Pilar L. Magoulas作者: 宴會 時間: 2025-3-24 17:39
Lijun Wang,Arunkanth Ankala,Hamoud Al Khallaf,Xinjian Wang,Mikhail Martchenko,Biao Dong,Ammar Husami作者: laceration 時間: 2025-3-24 20:47 作者: 萬神殿 時間: 2025-3-25 00:27 作者: 令人心醉 時間: 2025-3-25 06:28 作者: 刺激 時間: 2025-3-25 09:27 作者: 金桌活畫面 時間: 2025-3-25 12:42 作者: 小平面 時間: 2025-3-25 17:51 作者: Climate 時間: 2025-3-25 20:21 作者: 愛社交 時間: 2025-3-26 01:17 作者: Graves’-disease 時間: 2025-3-26 05:33
Diagnosing Hereditary Cancer Susceptibility Through Multigene Panel Testing,of pathogenic variants in moderate penetrance genes, and individuals harboring pathogenic variants in multiple cancer susceptibility genes. Such observations have highlighted the need for data sharing and collaborative efforts, which is also discussed.作者: MORPH 時間: 2025-3-26 09:25 作者: lesion 時間: 2025-3-26 14:01 作者: 種植,培養(yǎng) 時間: 2025-3-26 20:43
Comprehensive Analyses of the Mitochondrial Genome,hang-Wong method”, can achieve a one-step cost-effective comprehensive diagnosis with greatly improved diagnostic yield, and is regarded as the “new gold standard” (Zhang et al. Clin. Chem. 58:1322–1331, 2012). The enhanced sensitivity, accuracy, and reproducibility of simultaneous detection and qua作者: AMPLE 時間: 2025-3-26 21:02
Exome Sequencing in the Clinical Setting,nts who had previously tested negative for specific genes, karyotype, and/or microarray studies, can now be utilized as an effective first tier test, usually for patients with nonspecific phenotypes or phenotypes suggesting substantial genetic heterogeneity. Additionally, the improvement of the meth作者: MITE 時間: 2025-3-27 01:23 作者: 單獨 時間: 2025-3-27 08:41
l mechanisms of surface degradation.Comprises of chapters il.This book is intended to help engineers analyze service condition and potential mechanisms of surface degradation. This will enable engineers? select suitable materials for improved service-life and performance of engineering components. T作者: Bravura 時間: 2025-3-27 11:54
Lee-Jun C. Wong Ph.D.ng provided by a modified Falex test machine. A series of four tests were made to access the effect of implanting various combinations of the two members of the wearing couple. Results indicated that implantation of the V-blocks had little effect on the wear rates of either member of the wear couple作者: pulmonary 時間: 2025-3-27 14:35 作者: MOTIF 時間: 2025-3-27 19:09 作者: 駕駛 時間: 2025-3-28 00:25 作者: 弓箭 時間: 2025-3-28 05:50
Xia Wang Ph.D.,Linyan Meng Ph.D.,Magalie S. Leduc Ph.D. graphene-based solar photovoltaics. With their extraordinary electrical, mechanical, and thermal properties graphene-based materials are considered as an ideal candidate for the fabrication of low-cost and scalable photovoltaic devices. In fact, graphene-based materials have been successfully imple作者: 使聲音降低 時間: 2025-3-28 10:07 作者: 催眠 時間: 2025-3-28 11:23 作者: Breach 時間: 2025-3-28 17:49 作者: 厭煩 時間: 2025-3-28 20:40 作者: 開頭 時間: 2025-3-28 23:02
Detection of Copy Number Variations (CNVs) Based on the Coverage Depth from the Next Generation Seqlished methods to detect CNVs are array comparative genomic hybridization (aCGH) and MPLA. With the fast adaption of next generation sequencing (NGS) in the clinical sequencing, increasing interest has been attributed to the detection of CNV from NGS data. In this chapter, we describe an easy-to-imp作者: 用肘 時間: 2025-3-29 03:23
Next Generation Sequencing (NGS) Based Panel Analysis of Metabolic Pathways,ommon metabolic pathways that may consist of a series of reactions and other related reactions. One example is methylmalonic aciduria (MMA) due to defects in the conversion of methylmalonylCoA to succinylCoA, which requires a mutase and a cofactor; the adenosylcobalamin (adoCbl). Vitamin B12 is an i作者: –scent 時間: 2025-3-29 08:34
The Next Generation Sequencing Based Molecular Diagnosis of Visual Diseases, the etiology of visual impairments is both complex and multifactorial, genetic factors have been shown to play important roles. Both common and rare genetic variants have been associated with various types of inherited visual disorders. Studying the genetics of visual impairments can help to confir作者: hypotension 時間: 2025-3-29 15:09 作者: indices 時間: 2025-3-29 16:13
Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases,sually present with recurrent or severe infections and can be difficult to manage with conventional treatments. The types of infections in patients with PIDs are related to which arm of the immune system is affected, and often provide the first clues to the nature of the immunologic defect. Without 作者: landmark 時間: 2025-3-29 20:28
Next-Generation Sequencing Based Testing for Disorders of the Skeleton,nical practice. The presentations and etiologies of genetic forms of skeletal disorders are very heterogeneous; therefore, they can be challenging to diagnose. An accurate diagnosis is very important for counseling regarding the natural history and recurrence risks as well as for appropriate managem作者: 植物學 時間: 2025-3-30 01:56 作者: 描述 時間: 2025-3-30 04:12 作者: LIMN 時間: 2025-3-30 08:14 作者: Reverie 時間: 2025-3-30 13:00
Next-Generation Sequencing for the Diagnosis of Monogenic Disorders of Insulin Secretion,atment of patients with these rare conditions. These disorders include single-gene defects associated with increased insulin secretion, causing hypoglycemia, and decreased insulin secretion, resulting in diabetes..Mutations in at least 40 genes have been identified through studies using genetic link作者: 博識 時間: 2025-3-30 18:26
Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases,the myocardium, and the heart’s electrical circuit, and congenital heart disease (CHD). In the etiology of most CVDs, a clear hereditary component has been demonstrated. CVDs can be divided in two major categories: the monogenic and the polygenic/multifactorial forms and have long been at the forefr作者: EWER 時間: 2025-3-30 21:39
Comprehensive Analyses of the Mitochondrial Genome,variant (SNV) across the entire coding regions, as well as structural variations such as large deletions with mapping of the breakpoints. Traditionally, diagnosis of mtDNA-related disorders is achieved by employing step-wise procedures, such as PCR based Sanger sequencing for SNV, real time quantita作者: 松軟無力 時間: 2025-3-31 04:45 作者: 多嘴 時間: 2025-3-31 05:58
Family-Based Next-Generation Sequencing Analysis, of NGS, family-based sequencing analysis has been increasingly used to identify causal genes for Mendelian disorders and to aid the rare variants association analysis for common complex traits. By incorporating relatedness among family members, several family-based variant calling algorithms have b作者: 細微的差異 時間: 2025-3-31 10:51
Next Generation of Carrier Screening,esting used targeted genotyping panels to detect common mutations among specific ethnic groups. While the sensitivity of this approach is generally acceptable, private or ultra-rare mutations will be missed. Next generation sequencing (NGS) has been adopted in recent years for carrier screening in o作者: Orchiectomy 時間: 2025-3-31 17:15 作者: 吞噬 時間: 2025-3-31 18:28
http://image.papertrans.cn/n/image/666224.jpg作者: 剛毅 時間: 2025-4-1 01:25
https://doi.org/10.1007/978-3-319-56418-0NGS; bioinformatics; exome; genetics; genomics; mitochondrial作者: 無底 時間: 2025-4-1 03:23
Overview of the Clinical Utility of Next Generation Sequencing in Molecular Diagnoses of Human Genegenetic disorders. This chapter describes the clinical utility of the Next Generation Sequencing (NGS), the scope of its application, its power in detecting DNA changes that were not previously possible by conventional methods, and its evolution into the new gold standard of molecular diagnoses.
