外显子-话题@MedSci

#外显子#

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外显子

2020-05-29

docwu2019 (审核中...)

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#外显子#

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

2020-08-11

docwu2019 (审核中...)

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#外显子#

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

2020-08-01

docwu2019 (审核中...)

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#外显子#

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

2020-06-26

docwu2019 (审核中...)

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#外显子#

Blood：全外显子测序明确STAB2罕见变异与VTE密切相关

2020-06-03

docwu2019 (审核中...)

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#外显子#

Clinica Chimica Acta：外显子缺失和罕见突变的组合可导致丙酸血症的误诊？

2020-04-14

docwu2019 (审核中...)

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#外显子#

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

2020-04-09

docwu2019 (审核中...)

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#外显子#

治疗14号外显子跳跃突变非小细胞肺癌（METex14）：MET抑制剂Tepmetko在日本获批

2020-03-27

docwu2019 (审核中...)

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#外显子#

外显子跳跃疗法Vyondys 53治疗Duchenne肌营养不良症

2019-12-15

docwu2019 (审核中...)

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#外显子#

Sci Rep：全外显子罕见变异分析鉴定了3个新的前列腺癌诱发性基因

2019-12-12

docwu2019 (审核中...)

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#外显子#

FDA批准针对TMB的癌症全外显子组临床基因检测产品

2019-11-16

docwu2019 (审核中...)

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#外显子#

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

2019-09-15

docwu2019 (审核中...)

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#外显子#

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

2019-09-14

docwu2019 (审核中...)

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#外显子#

J Dent Res：成牙本质细胞外显子能够减弱临近细胞凋亡

2019-09-11

docwu2019 (审核中...)

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#外显子#

Nature：细胞如何识别内含子和外显子？周正洪/赵睿联合课题组找到关键

2019-09-06

docwu2019 (审核中...)

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#外显子#

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

2019-08-10

docwu2019 (审核中...)

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#外显子#

ASCO2019 |化疗优于EGFR TKI？中国晚期NSCLC EGFR 20外显子插入突变患者的真实世界治疗结果

2019-06-06

docwu2019 (审核中...)

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#外显子#

Nature：史上大规模外显子测序！这些基因和糖尿病有关（附详细列表）

2019-05-25

docwu2019 (审核中...)

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#外显子#

DIABETOLOGIA：从外显子广泛的相关性研究的蛋白尿

2019-05-08

docwu2019 (审核中...)

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#外显子#

Lancet Child Adolesc Health：外显子测序发现儿童肾母细胞瘤新的Wilms肿瘤易感基因

2019-03-26

docwu2019 (审核中...)

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#外显子#

英国生物银行生成"很大的外显子组数据开放存取资源"

2019-03-14

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