文献
J-GLOBAL ID:202002255056923511
整理番号:20A1115595
EFNB1における新規ナンセンス突然変異に対する男性患者モザイクにおける重度頭蓋前頭症候群【JST・京大機械翻訳】
Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1
著者 (10件):
Shotelersuk Varote
(Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand)
,
Shotelersuk Varote
(Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand)
,
Kamolvisit Wuttichart
(Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand)
,
Kamolvisit Wuttichart
(Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand)
,
Rojvachiranonda Nond
(Division of Plastic and Reconstructive Surgery, Department of Surgery, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand)
,
Suphapeetiporn Kanya
(Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand)
,
Suphapeetiporn Kanya
(Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand)
,
Porntaveetus Thantrira
(Genomics and Precision Dentistry Research Unit, Department of Physiology, Faculty of Dentistry, Chulalongkorn University, Bangkok, 10330, Thailand)
,
Shotelersuk Vorasuk
(Center of Excellence for Medical Genomics, Medical Genomics Cluster, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand)
,
Shotelersuk Vorasuk
(Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, 10330, Thailand)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
63
号:
6
ページ:
Null
発行年:
2020年
JST資料番号:
A1224A
ISSN:
1769-7212
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)