Ultra-rare Disease and Genomics-Driven Precision Medicine-Reference-Cited by-同舟云学术

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Ultra-rare Disease and Genomics-Driven Precision Medicine

Published:2016 Issue:2 Volume:14 Page:42
ISSN:2234-0742
Container-title:Genomics & Informatics
language:en
Short-container-title:Genomics Inform

Author:

Lee Sangmoon¹,Choi Murim¹

Affiliation:

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

Publisher

Korea Genome Organization

Subject

Health Informatics,Genetics,Ecology, Evolution, Behavior and Systematics

Reference27 articles.

1. Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy

2. Next-generation sequencing technology in prostate cancer diagnosis, prognosis, and personalized treatment

3. Care for patients with ultra-rare disorders

4. A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

5. Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia

Cited by 6 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. Rare and Ultra-Rare Diseases as Causes of Cardiomyopathy;ABC Heart Fail Cardiomyop;2023-07

2. Genetic Counseling and Pedigree in Cardiomyopathies – the Role of the Clinical Geneticist;ABC Heart Fail Cardiomyop;2023-07

3. Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin;Life Science Alliance;2022-01-21

4. Genetic Counseling Status and Perspectives Based on a 2018 Professional Survey in Korea;Annals of Laboratory Medicine;2020-05-01

5. Clinically Integrated Molecular Diagnostics in Adenoid Cystic Carcinoma;The Oncologist;2019-03-29

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