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J-GLOBAL ID:201802237341646331   整理番号:18A0927073

LDS関連遺伝子TGFB2/3とSmad2/3に関する突然変異更新【JST・京大機械翻訳】

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
著者 (48件):
Schepers Dorien
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Tortora Giada
(Medical Genetics Unit, Department of Medical and Surgical Sciences, University of Bologna, Policlinico Sant’Orsola-Malpighi, Bologna, Italy)
Tortora Giada
(Department of Molecular and Clinical Sciences, Marche Polytechnic University, Ancona, Italy)
Morisaki Hiroko
(Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan)
Morisaki Hiroko
(Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan)
Morisaki Hiroko
(Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan)
MacCarrick Gretchen
(McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland)
Lindsay Mark
(Thoracic Aortic Center, Departments of Medicine and Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston)
Liang David
(Cardiovascular Medicine, Stanford University Medical Center, Stanford, California)
Mehta Sarju G.
(East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK)
Hague Jennifer
(East Anglian Regional Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke’s Hospital, Cambridge, UK)
Verhagen Judith
(Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands)
van de Laar Ingrid
(Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands)
Wessels Marja
(Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands)
Detisch Yvonne
(Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands)
van Haelst Mieke
(Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands)
van Haelst Mieke
(Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands)
Baas Annette
(Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands)
Lichtenbelt Klaske
(Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands)
Braun Kees
(Department of Child Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands)
van der Linde Denise
(Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands)
Roos-Hesselink Jolien
(Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands)
McGillivray George
(Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia)
Meester Josephina
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Maystadt Isabelle
(Centre de Genetique Humaine, Institut de Pathologie et de Genetique (IPG), Gosselies (Charleroi), Belgium)
Coucke Paul
(Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent, Belgium)
El-Khoury Elie
(Department of Diagnostic Cardiology, Clinique St Luc, Bouge (Namur), Belgium)
Parkash Sandhya
(Department of Pediatrics, Maritime Medical Genetics Service, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada)
Diness Birgitte
(Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark)
Risom Lotte
(Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark)
Scurr Ingrid
(Department of Clinical Genetics, St. Michael’s Hospital, Bristol, UK)
Hilhorst-Hofstee Yvonne
(Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands)
Morisaki Takayuki
(Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Suita, Osaka, Japan)
Morisaki Takayuki
(Department of Molecular Pathophysiology, Osaka University Graduate School of Pharmaceutical Sciences, Suita, Osaka, Japan)
Richer Julie
(Department of Medical Genetics, Children’s Hospital of Eastern Ontario, Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada)
Desir Julie
(Centre de Genetique Humaine, Hopital Erasme, Universite Libre de Bruxelles, Belgium)
Kempers Marlies
(Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands)
Rideout Andrea L.
(Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada)
Horne Gabrielle
(Department of Medicine (Cardiology) and School of Biomedical Engineering, Dalhousie University, Halifax, Nova Scotia, Canada)
Bennett Chris
(Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK)
Rahikkala Elisa
(Department of Clinical Genetics, Oulu University Hospital, University of Oulu, Oulu, Finland)
Vandeweyer Geert
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Alaerts Maaike
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Verstraeten Aline
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Dietz Hal
(McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland)
Van Laer Lut
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Loeys Bart
(Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium)
Loeys Bart
(Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands)

資料名:
Human Mutation  (Human Mutation)

巻: 39  号:ページ: 621-634  発行年: 2018年 
JST資料番号: W2601A  ISSN: 1059-7794  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)
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