致病基因-话题@MedSci

#致病基因#

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致病基因

2020-05-29

wfang548 (审核中...)

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#致病基因#

Ann Neurol：王柠教授团队发现眼咽远端型肌病新致病基因RILPL1

2022-07-04

wfang548 (审核中...)

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#致病基因#

Nature Biotechnology：斯坦福/牛津纳米孔/谷歌/英伟达合作，开发超快速纳米孔测序，7小时发现致病基因突变

2022-03-31

wfang548 (审核中...)

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#致病基因#

NEJM：史上最快！超快纳米孔技术8小时测序基因组，找到致病基因，挽救生命

2022-01-17

wfang548 (审核中...)

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#致病基因#

STTT：高飞/李铮等揭示男性无精症致病基因，并通过CRISPR基因编辑进行修复

2022-01-07

wfang548 (审核中...)

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#致病基因#

JAMA子刊：帕金森病的致病基因有哪些？

2021-02-16

wfang548 (审核中...)

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#致病基因#

AJHG：曹云霞/张锋团队等鉴定新弱畸精子症致病基因CFAP58

2020-08-16

wfang548 (审核中...)

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#致病基因#

中外专家携手发现新遗传性肝病锁定致病基因

2020-08-06

wfang548 (审核中...)

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#致病基因#

Cell Death Dis：遗传性肾小管性酸中毒（dRTA）家族致病基因筛查及功能研究

2020-03-21

wfang548 (审核中...)

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#致病基因#

Circulation：先天性长QT综合征致病基因评估

2020-02-16

wfang548 (审核中...)

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#致病基因#

Cell：渐冻症新机制被揭示，致病基因阻碍了神经元中RNA“搭便车”

2019-09-26

wfang548 (审核中...)

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#致病基因#

JACC：汉族自发冠脉夹层致病基因

2019-07-15

wfang548 (审核中...)

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#致病基因#

JACC：FHOD3是肥厚型心肌病的新致病基因

2018-11-16

wfang548 (审核中...)

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#致病基因#

Nature：致病基因变异或可实现精准编辑

2018-11-14

wfang548 (审核中...)

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#致病基因#

Sci China Life Sci:大规模散发主动脉夹层病人基因筛查揭示国人主动脉夹层新致病基因

2018-10-29

wfang548 (审核中...)

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#致病基因#

AM J HUM GENET：李卫/曹云霞合作组再次发现无头精子症致病基因

2018-07-23

wfang548 (审核中...)

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#致病基因#

Nat Immunol :林欣/贾鑫明合作团队报道过敏性支气管肺曲霉菌病关键致病基因及其作用机制

2018-05-26

wfang548 (审核中...)

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#致病基因#

Nat Genet | 同期2篇论文全面解读前列腺癌的致病基因和突变

2018-05-26

wfang548 (审核中...)

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#致病基因#

Nat Commun：科学家筛出近 80 个抑郁症致病基因

2018-04-21

wfang548 (审核中...)

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#致病基因#

Am J Hum Genet：复旦王磊组发现人类卵子受精障碍新致病基因

2018-04-04

wfang548 (审核中...)

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#致病基因#

酪氨酸血症Ⅱ型一家系调查及致病基因分析

2018-03-22

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