外显子组测序-话题@MedSci

#外显子组测序#

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objectUrl=/article/show_article.do?id=5c4f3e35737, replyNumber=0, likeNumber=34, createdTime=2014-09-29, rootId=0, userName=dlwang_26703136, userId=d6c628851013, projectId=1, avatar=, status=1, hasArticle=1, attachment=null, ipAttribution=, moduleDTOList=[ModuleDTO(moduleId=5c4f3e35737, moduleTitle=NEJM：基因组和外显子组测序的临床指南, moduleType=article, hrefUrl=https://www.medsci.cn/article/show_article.do?id=5c4f3e35737)], followStatus=false, userIsMember=false, type=1, lengthMark=0)] 梅斯话题小助手

外显子组测序

2020-05-29

梅斯管理员 (审核中...)

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#外显子组测序# #无创产前筛查#

NEJM：基于深度家系外显子测序的无创产前筛查技术（DES-NIPT）实现胎儿特异性致病变异的精准检测

2024-01-13发表于陕西省

dlwang_26703136 (审核中...)

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#外显子组测序#

JNNP：提高护理转诊中心外显子组测序的效率：罕见神经遗传疾病的新突变、临床表现和诊断挑战

2022-05-15

dlwang_26703136 (审核中...)

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#外显子组测序#

Clinica Chimica Acta：全外显子组测序揭示了MODY的新的候选基因变异

2021-06-16

dlwang_26703136 (审核中...)

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#外显子组测序#

NEJM：外显子组测序用于非免疫性胎儿水肿的产前诊断

2021-02-15

dlwang_26703136 (审核中...)

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#外显子组测序#

medRxiv：暨南大学周庆华研究员参与的队列研究，揭示全外显子组测序在妊娠流产中的临床实用性

2020-12-11

dlwang_26703136 (审核中...)

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#外显子组测序#

Genome Med：研究对2572名肺动脉高血压患者进行外显子组测序，发现了新的危险基因和机制

2020-05-28

dlwang_26703136 (审核中...)

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#外显子组测序#

Clinica Chimica Acta：利用全外显子组测序对中国骨发育不良患者进行产前诊断

2021-05-17

dlwang_26703136 (审核中...)

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#外显子组测序#

Clin Genet：全外显子组测序鉴定散发性汉族耳聋患者的稀有致病候选变异位点

2020-02-09

dlwang_26703136 (审核中...)

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#外显子组测序#

Clinica Chimica Acta：通过外显子组测序发现了一个进行性肌阵挛性癫痫女孩的KCTD7复合杂合突变

2019-11-22

dlwang_26703136 (审核中...)

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#外显子组测序#

Clinica Chimica Acta：全外显子组测序检测台湾儿童非典型溶血性尿毒症患者的突变

2020-02-08

dlwang_26703136 (审核中...)

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#外显子组测序#

Sci Rep：全外显子组测序鉴定了非综合症听力损失患者KCNQ4中2个新的变异

2019-05-13

dlwang_26703136 (审核中...)

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#外显子组测序#

PeerJ：20例高度近视患者的外显子组测序研究

2019-05-01

dlwang_26703136 (审核中...)

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#外显子组测序#

Genome Med：具有超声异常和疑似孟德尔病症的胎儿的临床外显子组测序研究

2019-03-02

dlwang_26703136 (审核中...)

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#外显子组测序#

Clin Genet：全外显子组测序在HOMER2中鉴定了常染色体显性非综合征耳聋的一个第二致病变异

2019-03-28

dlwang_26703136 (审核中...)

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#外显子组测序#

J Rheumatol：早发性系统性红斑狼疮的全外显子组测序

2018-08-06

dlwang_26703136 (审核中...)

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#外显子组测序#

PLoS One：综合征或者非综合征听力损失病人外显子组测序诊断结果分析

2018-03-30

dlwang_26703136 (审核中...)

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#外显子组测序#

BMC Med Genet：全外显子组测序在听觉神经谱系混乱疾病中鉴定了一个新型复合杂合子突变

2017-09-21

dlwang_26703136 (审核中...)

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#外显子组测序#

基因外显子组测序，可以诊断近三成的临床疾病

2016-02-28

dlwang_26703136 (审核中...)

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#外显子组测序#

EASL 2015：外显子组测序有助于肝癌个体化治疗

2015-10-21

dlwang_26703136 (审核中...)

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#外显子组测序#

NEJM：基因组和外显子组测序的临床指南

2014-09-29

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