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Targeted sequencing of samples from patients with a suspected clinical diagnosis of Fanconi Anemia
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创建时间：
2023-09-08
相关数据集
Case report: Next Generation Sequencing in clinical practice – a real tool for ending the protracted diagnostic odyssey. NGS for diagnosing rare disorders
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
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Additional file 1 of The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
Additional file 1. Detailed information of genetically confirmed patients.
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Brazilian family with hyperferritinemia-cataract syndrome: case report
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
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CRISPR gene editing and inducible pluripotent stem cell neuronal disease modelling for rare disease diagnosis: EMHM1 genetic variant analysis in Kleefstra Syndrome
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
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Data table 1 - Demographic characteristics of the cohort
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
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