文献
J-GLOBAL ID:202002221988226805
整理番号:20A1430863
Langer-Giedion症候群とCornelia de Lange症候群4の患者における完全に特徴づけられたクロモスリプシスのロングリードDNA配列決定
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4
著者 (14件):
Lei Ming
(Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China)
,
Lei Ming
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
,
Lei Ming
(China Astronaut Research and Training Center, Beijing, China)
,
Liang Desheng
(Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China)
,
Yang Yifeng
(Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China)
,
Mitsuhashi Satomi
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
,
Katoh Kazutaka
(Research Institute for Microbial Diseases, Osaka University, Suita, Japan)
,
Katoh Kazutaka
(Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST), Tokyo, Japan)
,
Miyake Noriko
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
,
Frith Martin C.
(Artificial Intelligence Research Center, National Institute of Advanced Industrial Science and Technology (AIST), Tokyo, Japan)
,
Frith Martin C.
(Graduate School of Frontier Sciences, University of Tokyo, Chiba, Japan)
,
Frith Martin C.
(Computational Bio Big-Data Open Innovation Laboratory (CBBD-OIL), AIST, Tokyo, Japan)
,
Wu Lingqian
(Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China)
,
Matsumoto Naomichi
(Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
資料名:
Journal of Human Genetics (Web)
(Journal of Human Genetics (Web))
巻:
65
号:
8
ページ:
667-674
発行年:
2020年
JST資料番号:
U1593A
ISSN:
1434-5161
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
ドイツ (DEU)
言語:
英語 (EN)