Initiative on Rare and Undiagnosed Disease in Japan
Author:
Publisher
Japan Medical Association
Subject
General Medicine,General Chemistry
Cited by 22 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A pathogenic missense variant, c.2149G>A (p.Gly717Arg), in CDK13 in a female patient with CDK13-related disorder: A case report and literature review of 112 cases;Brain and Development Case Reports;2024-09
2. Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases;Journal of Human Genetics;2024-08-15
3. Computer-assisted patient identification tool in inborn errors of metabolism – potential for rare disease patient registry and big data analysis;Clinica Chimica Acta;2024-07
4. Orfannaya patologiya v respublike Severnaya Osetiya – Alaniya: struktura, populyacionno-geneticheskie osobennosti, problemy i perspektivy;Вестник Российского государственного медицинского университета;2024-06
5. Orphan diseases in the republic of North Ossetia–Alania: structure, population genetic features, issues and prospects;Bulletin of Russian State Medical University;2024-06
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