文献
J-GLOBAL ID:201702227421553560
整理番号:17A1126431
脳梁,発作と小頭症の低形成患者におけるde novo微小欠失1q44の同定の1例【Powered by NICT】
Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report
著者 (8件):
Westphal Dominik S.
(Institute of Human Genetics, Technical University Munich, Munich, Germany)
,
Westphal Dominik S.
(Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany)
,
Andres Stephanie
(Institute of Human Genetics, Technical University Munich, Munich, Germany)
,
Beitzel Kirsten I.
(Department of Diagnostic and Pediatric Radiology, Schwabing Hospital, Munich, Germany)
,
Makowski Christine
(Department for Pediatrics, Technical University Munich, Munich, Germany)
,
Meitinger Thomas
(Institute of Human Genetics, Technical University Munich, Munich, Germany)
,
Meitinger Thomas
(Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany)
,
Hoefele Julia
(Institute of Human Genetics, Technical University Munich, Munich, Germany)
資料名:
Gene
(Gene)
巻:
616
ページ:
41-44
発行年:
2017年
JST資料番号:
E0701B
ISSN:
0378-1119
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)