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古文書硏究
ISSN
P 1598-3218 E 2671-8081
출판사
한국고문서학회
국가
SOUTH KOREA
발행 상태
비활성
데이터베이스 수록 정보
KCI 2009-2025 (17년)
KCI 등재 2004-2026 (23년)
KCI 등재후보 2001-2003 (3년)
전체 3건 중 1번부터 3번까지의 결과를 표시합니다.
2015
Article
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
- O'Rawe, Jason A. ;
- Wu, Yiyang ;
- Doerfel, Max J. ;
- Rope, Alan F. ;
- Au, P. Y. Billie ;
- ... Moon, Sungjin ;
- 외 42명
- 2015-12
- American Journal of Human Genetics
- CELL PRESS
2012
Article
A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency
- Zhou, Qing ;
- Lee, Geun-Shik ;
- Brady, Jillian ;
- Datta, Shrimati ;
- Katan, Matilda ;
- 외 14명
- 2012-10-05
- American Journal of Human Genetics
- CELL PRESS
2007
Article
Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiornyopathy
- Kirk, Edwin P. ;
- Sunde, Margaret ;
- Costa, Mauro W. ;
- Rankin, Scott A. ;
- Wolstein, Orit ;
- 외 18명
- 2007-08
- American Journal of Human Genetics
- UNIV CHICAGO PRESS