文献
J-GLOBAL ID:202202216103789526
整理番号:22A0892322
視床下部過誤腫における二対立遺伝子SMO変異体:Pallister-Hall症候群の劣性原因【JST・京大機械翻訳】
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
著者 (10件):
Green Timothy E.
(Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Vic, Australia)
,
Schimmel Mareike
(Children’s Hospital, University Hospital Augsburg, Augsburg, Germany)
,
Schubert Susanna
(Institute of Human Genetics, University of Leipzig Medical Centre, Leipzig, Germany)
,
Lemke Johannes R.
(Institute of Human Genetics, University of Leipzig Medical Centre, Leipzig, Germany)
,
Bennett Mark F.
(Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Vic, Australia)
,
Bennett Mark F.
(Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Melbourne, Vic, Australia)
,
Bennett Mark F.
(Department of Medical Biology, University of Melbourne, Melbourne, Vic, Australia)
,
Hildebrand Michael S.
(Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Vic, Australia)
,
Hildebrand Michael S.
(Neuroscience Research Group, Murdoch Children’s Research Institute, Royal Children’s Hospital, Parkville, Vic, Australia)
,
Berkovic Samuel F.
(Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Vic, Australia)
資料名:
European Journal of Human Genetics
(European Journal of Human Genetics)
巻:
30
号:
3
ページ:
384-388
発行年:
2022年
JST資料番号:
W4344A
ISSN:
1018-4813
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
ドイツ (DEU)
言語:
英語 (EN)