文献
J-GLOBAL ID:202002256623926952
整理番号:20A0480631
イスラエルのDruze集団における新規PCNT創始病原性変異体の同定【JST・京大機械翻訳】
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population
著者 (19件):
Weiss Karin
(Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA)
,
Weiss Karin
(The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel)
,
Ekhilevitch Nina
(The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel)
,
Ekhilevitch Nina
(The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, 3525433, Israel)
,
Cohen Lior
(Genetics Institute, Schneider Children’s Medical Center, Petah Tikva, 49202, Israel)
,
Cohen Lior
(Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel)
,
Bratman-Morag Sharon
(Internal Medicine B, Rambam Health Care Campus, Haifa, Israel)
,
Bello Rachel
(Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 69978, Israel)
,
Bello Rachel
(The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes, Schneider Children’s Medical Center of Israel, Petah Tikva, Israel)
,
Martinez Ariel F.
(Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA)
,
Hadid Yarin
(The Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Haifa, Israel)
,
Shlush Liran I.
(Department of Immunology, Weizmann Institute of Science, Rehovot, Israel)
,
Kurolap Alina
(The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel)
,
Kurolap Alina
(The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, 3525433, Israel)
,
Paperna Tamar
(The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel)
,
Mory Adi
(The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel)
,
Baris Hagit N.
(The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel)
,
Baris Hagit N.
(The Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, 3525433, Israel)
,
Muenke Maximilian
(Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
63
号:
2
ページ:
Null
発行年:
2020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)