文献
J-GLOBAL ID:201802240917481183
整理番号:18A0266195
ROBO1における複合ヘテロ接合変異体前交連および脳梁の横方向橋繊維と間伐の欠損を伴う神経発達障害を引き起こす【Powered by NICT】
Compound Heterozygous Variants in ROBO1 Cause a Neurodevelopmental Disorder With Absence of Transverse Pontine Fibers and Thinning of the Anterior Commissure and Corpus Callosum
著者 (12件):
Calloni Sonia F.
(Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland)
,
Calloni Sonia F.
(Universita degli Studi di Milano, Postgraduation School in Radiodiagnostics, Milan, Italy)
,
Cohen Julie S.
(Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland)
,
Meoded Avner
(Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland)
,
Meoded Avner
(Pediatric Radiology and Pediatric Neuroradiology, Johns Hopkins All Children’s Hospital, St. Petersburg, Florida)
,
Juusola Jane
(Whole Exome Sequencing Program, GeneDx, Gaithersburg, Maryland)
,
Triulzi Fabio M.
(Department of Neuroradiology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy)
,
Huisman Thierry A.G.M.
(Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland)
,
Poretti Andrea
(Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland)
,
Fatemi Ali
(Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland)
,
Fatemi Ali
(Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland)
,
Fatemi Ali
(Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland)
資料名:
Pediatric Neurology
(Pediatric Neurology)
巻:
70
ページ:
70-74
発行年:
2017年
JST資料番号:
W3302A
ISSN:
0887-8994
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)