第一单位：
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
作者：
Joshi,Stephen [1]
;
Thierry,Vilboux [2]
;
Yael,Haberman [3]
;
Hadass,Pri-Chen [4]
;
Ben,Pode-Shakked [5]
;
Sina,Mazaheri [1]
;
Dina,Marek-Yagel [6]
;
Ortal,Barel [7]
;
Ayelet,Di Segni [7]
;
Eran,Eyal [7]
;
Goni,Hout-Siloni [7]
;
Avishay,Lahad [8]
;
Tzippora,Shalem [8]
;
Gideon,Rechavi [9]
;
May Christine V,Malicdan [10]
;
Batia,Weiss [11]
;
William A,Gahl [12]
;
Yair,Anikster [13]
作者单位：
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[1]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.;Division of Medical Genomics, Inova Translational Medicine Institute, Fairfax, VA, USA.
[2]
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.;Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[3]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[4]
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.;The Dr Pinchas Borenstein Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Israel.
[5]
Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
[6]
Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
[7]
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
[8]
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Israel.
[9]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.;NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[10]
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
[11]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.;NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.;Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, MD, USA.
[12]
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.;Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.
[13]
DOI
10.1038/ejhg.2016.5
PMID
26883093
发布时间
2024-09-22
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