文献
J-GLOBAL ID:202202264629688553
整理番号:22A0443414
LRRK1突然変異の表現型の拡大-悪性大理石骨症の特徴および家族内変数発現性による視神経萎縮【JST・京大機械翻訳】
Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity
著者 (29件):
Chorin Odelia
(Institute of Rare Diseases, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Chorin Odelia
(The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel)
,
Chowers Guy
(Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Agbariah Rawan
(Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Karklinsky Shani
(Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Barel Ortal
(The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel)
,
Barel Ortal
(The Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel)
,
Bar-Joseph Ifat
(The Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel)
,
Bar-Joseph Ifat
(The Wohl Institute of Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel)
,
Reznik-Wolf Haike
(The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel)
,
Reznik-Wolf Haike
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
,
Shamash Jana
(The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel)
,
Pode-Shakked Ben
(Institute of Rare Diseases, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Pode-Shakked Ben
(Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Pode-Shakked Ben
(Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel)
,
Pode-Shakked Ben
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
,
Jacobson Jeffrey M.
(Pediatric Imaging Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Jacobson Jeffrey M.
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
,
Huna-Baron Ruth
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
,
Huna-Baron Ruth
(Neuro-Ophthalmology Unit, Sheba Medical Center, Tel-Hashomer, Israel)
,
Redler Yael
(Neuro-Ophthalmology Unit, Sheba Medical Center, Tel-Hashomer, Israel)
,
Tirosh Irit
(Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Tirosh Irit
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
,
Vivante Asaf
(Department of Pediatrics B, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Vivante Asaf
(Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel)
,
Vivante Asaf
(Pediatric Nephrology Unit, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Vivante Asaf
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
,
Raas-Rothschild Annick
(Institute of Rare Diseases, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel-Hashomer, Israel)
,
Raas-Rothschild Annick
(Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel)
資料名:
European Journal of Medical Genetics
(European Journal of Medical Genetics)
巻:
65
号:
1
ページ:
Null
発行年:
2022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)