全外显子组测序-话题@MedSci

#全外显子组测序#

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全外显子组测序

2020-05-29

梅斯管理员 (审核中...)

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#全外显子组测序# #肾病#

各类肾病接招！WES测序助力遗传诊断率超1/3，一些人甚至改变临床诊断和治疗

2023-12-12发表于上海

haouestc (审核中...)

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#全外显子组测序#

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

2020-11-14

haouestc (审核中...)

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#全外显子组测序#

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

2020-09-12

haouestc (审核中...)

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#全外显子组测序#

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

2020-08-29

haouestc (审核中...)

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#全外显子组测序#

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

2020-08-24

智慧医人 (审核中...)

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#全外显子组测序#

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

2020-04-05

haouestc (审核中...)

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#全外显子组测序#

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

2019-02-20

haouestc (审核中...)

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#全外显子组测序#

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

2019-07-03

haouestc (审核中...)

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#全外显子组测序#

J Rheumatol：早发性系统性红斑狼疮的全外显子组测序

2018-08-30

haouestc (审核中...)

前往app查看评论内容

#全外显子组测序#

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

2017-05-18

haouestc (审核中...)

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#全外显子组测序#

Science TM：全外显子组测序发现马兜铃酸能导致大规模基因突变

2014-07-12

haouestc (审核中...)

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#全外显子组测序#

Nature：全外显子组测序的技术发现高血压发病机制

2012-11-25

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