文献
J-GLOBAL ID:201802224522761903
整理番号:18A0492862
症候性肥満の非典型例に対する一次診断ツールとしての次世代シークエンシングカスタム遺伝子パネル:Alstrom症候群の1例への応用【Powered by NICT】
A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alstrom syndrome
著者 (8件):
Maltese Paolo E.
(Magi’s Lab, Rovereto, TN, Italy)
,
Iarossi Giancarlo
(Department of Ophthalmology, Bambino Gesu IRCCS Children’s Hospital, Rome, Italy)
,
Ziccardi Lucia
(“G.B. Bietti” Foundation, IRCCS, Rome, Italy)
,
Colombo Leonardo
(Department of Ophthalmology, San Paolo Hospital, University of Milan, Milan, Italy)
,
Buzzonetti Luca
(Department of Ophthalmology, Bambino Gesu IRCCS Children’s Hospital, Rome, Italy)
,
Crino Antonino
(Autoimmune Endocrine Diseases Unit, Bambino Gesu Children’s Hospital, Rome, Italy)
,
Tezzele Silvia
(Magi Euregio, Bolzano, BZ, Italy)
,
Bertelli Matteo
(Magi Euregio, Bolzano, BZ, Italy)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
61
号:
2
ページ:
79-83
発行年:
2018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)