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Editorial for the special collection: frontiers in rare disease genetics.

作者信息

Choi Murim

机构信息

Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea.

出版信息

Genomics Inform. 2025 Mar 7;23(1):9. doi: 10.1186/s44342-025-00039-2.

DOI:10.1186/s44342-025-00039-2
PMID:40055809
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11887329/
Abstract
摘要

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Common genetic etiologies of sensorineural hearing loss in Koreans.韩国人感音神经性听力损失的常见遗传病因。
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Molecular diagnostic approach to rare neurological diseases from a clinician viewpoint.从临床医生角度看罕见神经系统疾病的分子诊断方法
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Two novel mutations in ALDH18A1 and SPG11 gene found by whole-exome sequencing in spastic paraplegia disease patients in Iran.通过全外显子组测序在伊朗痉挛性截瘫疾病患者中发现ALDH18A1和SPG11基因的两个新突变。
Genomics Inform. 2022 Sep;20(3):e30. doi: 10.5808/gi.22030. Epub 2022 Sep 30.
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Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing.通过全外显子组测序鉴定与川崎病相关的罕见编码变异
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Genomics Inform. 2021 Sep;19(3):e28. doi: 10.5808/gi.21016. Epub 2021 Sep 30.
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A proof-of-concept study of extracting patient histories for rare/intractable diseases from social media.一项从社交媒体中提取罕见/难治性疾病患者病史的概念验证研究。
Genomics Inform. 2020 Jun;18(2):e17. doi: 10.5808/GI.2020.18.2.e17. Epub 2020 Jun 18.
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Ultra-rare Disease and Genomics-Driven Precision Medicine.超罕见病与基因组学驱动的精准医学
Genomics Inform. 2016 Jun;14(2):42-5. doi: 10.5808/GI.2016.14.2.42. Epub 2016 Jun 30.