外显子测序-话题@MedSci

#外显子测序#

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外显子测序

2020-05-29

梅斯管理员 (审核中...)

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#外显子测序# #脑瘫#

IVD前沿丨外显子测序可确定部分脑瘫儿童病因

2024-05-19发表于上海

梅斯管理员 (审核中...)

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#分子诊断# #基因检测# #外显子测序# #矮小症# #染色体微阵列分析#

JAMA Pediatr：外显子组测序和染色体微阵列分子技术在矮小症中的诊断率——系统性综述和荟萃分析

2023-12-15发表于上海

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#外显子测序# #端粒# #胃炎#

JOURNAL OF PATHOLOGY：通过全外显子测序方法发现一种新型端粒生物学疾病相关胃炎

2023-12-12发表于上海

jinweidong (审核中...)

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#外显子测序#

JAMA：外显子测序显示脑瘫患儿中，超过三成是由于致病突变导致的

2021-02-05

jinweidong (审核中...)

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#外显子测序#

Nat Med：外显子测序帮助筛查新生儿先天性代谢错误

2020-08-19

jinweidong (审核中...)

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#外显子测序#

Blood：全外显子测序明确STAB2罕见变异与VTE密切相关

2020-06-03

jinweidong (审核中...)

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#外显子测序#

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

jinweidong (审核中...)

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#外显子测序#

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

jinweidong (审核中...)

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#外显子测序#

NEJM：外显子测序在慢性肾病诊断中的意义

2019-01-13

jinweidong (审核中...)

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#外显子测序#

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

jinweidong (审核中...)

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#外显子测序#

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

jinweidong (审核中...)

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#外显子测序#

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

jinweidong (审核中...)