Development of Korean Rare Disease Knowledge Base-Reference-Cited by-同舟云学术

Development of Korean Rare Disease Knowledge Base

Published:2012 Issue:4 Volume:18 Page:272
ISSN:2093-3681
Container-title:Healthcare Informatics Research
language:en
Short-container-title:Healthc Inform Res

Author:

Seo Heewon¹²,Kim Dokyoon¹²,Chae Jong-Hee³⁴,Kang Hee Gyung⁵⁶,Lim Byung Chan³⁴,Cheong Hae Il⁵⁶⁷,Kim Ju Han¹²

Affiliation:

1. Seoul National University Biomedical Informatics (SNUBI), Division of Biomedical Informatics, Seoul National University College of Medicine, Seoul, Korea.

2. Systems Biomedical Informatics Research Center, Seoul National University, Seoul, Korea.

3. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

4. Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.

5. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.

6. Research Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.

7. Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea.

Publisher

The Korean Society of Medical Informatics

Subject

Health Information Management,Health Informatics,Biomedical Engineering

Link

https://synapse.koreamed.org/pdf/10.4258/hir.2012.18.4.272

Reference13 articles.

1. Rare Disease Research Gets Boost

2. Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene

3. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

4. Exome sequencing identifies the cause of a mendelian disorder

5. EURORDIS. Rare diseases: understanding this public health priority [Internet]. Paris. EURORDIS. 2005. cited at 2012 Dec 1. Available from: http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf

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