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6
Bi-allelic truncating mutations in VWA1 cause neuromyopathy. 미리보기

학술저널

issue
Brain : a journal of neurology [Brain] 2021 Mar 03; Vol. 144 (2), pp. 574-583.
Author
Deschauer M; Department of Neurology, Technical University of Munich, School of Medicine, 81675 Munich, Germany.
Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Rupprich K; Department of Neuropediatrics, University Hospital Essen, 45147 Germany.
Kreiß M; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Schlotter-Weigel B; Department of Neurology, Ludwig Maximilian University Munich, 80337 Munich, Germany.
Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Admard J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Schneider I; Department of Neurology, University of Halle-Wittenberg, 06097 Halle, Germany.
Alhaddad B; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.
Gazou A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Sturm M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
Vorgerd M; Department of Neurology, University Hospital Bergmannsheil, Heimer Institute for Muscle Research, 44789 Bochum, Germany.
Balousha G; Department of Pathology and Histology, Al-Quds University, Eastern Jerusalem, Palestinian Authority.
Balousha O; Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestinian Authority.
Falna M; Faculty of Medicine, Al-Quds University, Eastern Jerusalem, Palestinian Authority.
Kirschke JS; Department of Diagnostic and Interventional Neuroradiology, Technical University of Munich, School of Medicine, 81675 Munich, Germany.
Kornblum C; Department of Neurology, University Hospital Bonn, 53127 Bonn, Germany.
Jordan B; Department of Neurology, University of Halle-Wittenberg, 06097 Halle, Germany.; Department of Neurology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Kraya T; Department of Neurology, University of Halle-Wittenberg, 06097 Halle, Germany.
Strom TM; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.
Weis J; Institute for Neuropathology, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany.
Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.
Schara U; Department of Neuropediatrics, University Hospital Essen, 45147 Germany.
Zierz S; Department of Neurology, University of Halle-Wittenberg, 06097 Halle, Germany.
Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.
Meitinger T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Center for Rare Diseases, University of Tübingen, 72076 Tübingen, Germany.
DB Label
Database : MEDLINE
원문보기
Full Text (OUP)  등재 - Web of Science (SCIE)  등재 - SCOPUS  조회 - Impact Factor (JCR) 
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