文献
J-GLOBAL ID:202202272911950635
整理番号:22A0952040
Kohlshuetter-Tonz症候群:ROGDI変異体に関連する特徴の新しい特徴および詳細なレビューによる症例報告【JST・京大機械翻訳】
Kohlschuetter-Tonz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants
著者 (12件):
Liepina Lelde
(Department of Neurology and Neurosurgery, Children’s Clinical University Hospital, Riga, Latvia)
,
Kalnina Marija Luize
(Department of Neurology and Neurosurgery, Children’s Clinical University Hospital, Riga, Latvia)
,
Kalnina Marija Luize
(Faculty of Residency, Riga Stradins University, Riga, Latvia)
,
Micule Ieva
(Department of Clinical Medical Genetics and Prenatal Diagnostics, Children’s Clinical University Hospital, Riga, Latvia)
,
Gailite Linda
(Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia)
,
Rots Dmitrijs
(Scientific Laboratory of Molecular Genetics, Riga Stradins University, Riga, Latvia)
,
Rots Dmitrijs
(Radboud University Medical Centre, Nijmegen, The Netherlands)
,
Kalnina Julija
(Department of Conservative Dentistry and Oral Health, Institute of Stomatology, Riga Stradins University, Riga, Latvia)
,
Strautmanis Jurgis
(Department of Neurology and Neurosurgery, Children’s Clinical University Hospital, Riga, Latvia)
,
Strautmanis Jurgis
(Faculty of Residency, Riga Stradins University, Riga, Latvia)
,
Strautmanis Jurgis
(Epilepsy and Sleep Medicine Centre, Children’s Clinical University Hospital, Riga, Latvia)
,
Celmina Marta
(Epilepsy and Sleep Medicine Centre, Children’s Clinical University Hospital, Riga, Latvia)
資料名:
American Journal of Medical Genetics. Part A
(American Journal of Medical Genetics. Part A)
巻:
188
号:
4
ページ:
1263-1279
発行年:
2022年
JST資料番号:
E0725C
ISSN:
1552-4825
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
アメリカ合衆国 (USA)
言語:
英語 (EN)