09a237f6-013a-48ed-9935-541ac1f3210d - samples

NIAID Data Ecosystem2026-05-02 收录

罕见病基因诊断

基因组数据重分析

数据链接：

https://www.omicsdi.org/dataset/ega/EGAD00001009770 数据链接链接失效反馈

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资源简介：

Solve-RD data submitted to the ERN-ITHACA cohort for re-analysis (Data freeze 1+2) v1EGA dataset EGAD00001009770

创建时间：

2024-10-30

Case report: Next Generation Sequencing in clinical practice – a real tool for ending the protracted diagnostic odyssey. NGS for diagnosing rare disorders

罕见病基因诊断

下一代测序技术

We report a case of sitosterolemia, which is a rare genetic disease, characterized by increased plant sterol absorption and great heterogeneity of clinical manifestations. Our patient was initially re

NIAID Data Ecosystem50

Additional file 1 of The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure

罕见病基因诊断

未确诊疾病

Additional file 1. Detailed information of genetically confirmed patients.

Figshare2024-02-19 更新30

Brazilian family with hyperferritinemia-cataract syndrome: case report

遗传性高铁蛋白血症-白内障综合征

罕见病基因诊断

ABSTRACT Hereditary hyperferritinemia-cataract syndrome is a rare autosomal dominant disease caused by a genetic mutation in the iron responsive element in the 5’ untranslated region of the ferritin l

Figshare2022-10-01 更新20

CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome

罕见病基因诊断

CRISPR系统

Over 400 million people worldwide are living with a rare disease, with genetic variants determining 80% of cases. Next Generation Sequencing identifies potential disease causative genetic variants, ho

NIAID Data Ecosystem30

Data table 1 - Demographic characteristics of the cohort

遗传性免疫缺陷基因组学

罕见病基因诊断

Objectives: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The

Figshare2023-01-30 更新20

09a237f6-013a-48ed-9935-541ac1f3210d - samples

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