外显子-话题@MedSci

#外显子#

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外显子

2020-05-29

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#外显子#

NEJM：外显子测序在慢性肾病诊断中的意义

2019-01-13

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#外显子#

CIRC RES：目前很大法洛氏四联症队列的全外显子测序研究

2018-12-03

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#外显子#

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

2018-11-29

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#外显子#

J Rheumatol：多个NOTCH4外显子突变与系统性硬化症的关联

2018-11-24

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#外显子#

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

2018-10-08

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#外显子#

PeerJ：20例高度近视患者的外显子组测序研究

2018-10-01

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#外显子#

Neurology：见于von Hippel-Lindau病的中枢神经系统血管母细胞瘤伴外显子3缺失

2018-08-31

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#外显子#

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

2018-08-02

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#外显子#

J Rheumatol：早发性系统性红斑狼疮的全外显子组测序

2018-07-25

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#外显子#

Blood：在VHL基因内含子中发现神秘外显子，突变可导致红细胞增多症或VHL病

2018-06-15

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#外显子#

Blood：全外显子分析揭示基因对非血缘供体来源的血液骨髓移植后死亡率的影响

2018-04-05

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#外显子#

Hypertension：全外显子测序揭示约43%的中主动脉综合征患者的单致病基因

2018-03-06

docwu2019 (审核中...)

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#外显子#

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

2018-01-10

docwu2019 (审核中...)

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#外显子#

BMC Med Genet：全外显子测序鉴定到了一个能偶引起低频率听力损失的WFS1基因错义突变位点

2017-12-26

docwu2019 (审核中...)

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#外显子#

Nat Genet：阜外医院顾东风等报告国际大规模跨种族血脂外显子组研究

2017-11-03

docwu2019 (审核中...)

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#外显子#

J NATL CANCER I：利用全部外显子测序，以稀有变异、基因为基础对遗传性黑色素瘤的进行关联研究

2017-06-17

docwu2019 (审核中...)

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#外显子#

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

2017-04-07

docwu2019 (审核中...)

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#外显子#

ASCO 2016 巅峰对话：吴一龙、Alice Shaw解析ALK、ROS1、MET 14外显子跳跃突变研究进展

2016-06-12

docwu2019 (审核中...)

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#外显子#

Nat genet：外显子测序发现肺癌新突变

2016-05-12

docwu2019 (审核中...)

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#外显子#

基因外显子组测序，可以诊断近三成的临床疾病

2016-01-26

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