학술논문
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'학술논문'
에서 검색결과 238건 | 목록
1~20
Academic Journal
Zarate-Mendez M; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Basha NA; School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Podmanicky O; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Malig N; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Hathazi D; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Academic Journal
Nguyen CDL; Jimenez-Moreno AC; Merker M; Bowers CJ; Nikolenko N; Hentschel A; Muntefering T; Isham A; Ruck T; Vorgerd M; Dobelmann V; Gourdon G; Schara-Schmidt U; Gangfuss A; Schroder C; Sickmann A; Gross C; Gorman G; Stenzel W; Kollipara L; Hathazi D; Spendiff S; Gagnon C; Preusse C; Duchesne E; Lochmuller H; Roos A
Journal of Neurology. 270:3138-3158
Academic Journal
Hathazi, D; Griffin, H; Jennings, MJ; Giunta, M; Powell, C; Pearce, SF; Munro, B; Wei, W; Boczonadi, V; Poulton, J
EMBO JOURNAL. 39(23)
Conference
2015 13th International Conference on Engineering of Modern Electric Systems (EMES) Engineering of Modern Electric Systems (EMES), 2015 13th International Conference on. :1-4 Jun, 2015
Conference
2014 International Symposium on Fundamentals of Electrical Engineering (ISFEE) Fundamentals of Electrical Engineering (ISFEE), 2014 International Symposium on. :1-4 Nov, 2014
Conference
2013 8TH INTERNATIONAL SYMPOSIUM ON ADVANCED TOPICS IN ELECTRICAL ENGINEERING (ATEE) Advanced Topics in Electrical Engineering (ATEE), 2013 8th International Symposium on. :1-6 May, 2013
Conference
Lochmüller, Hanns; Polavarapu, K; Ross, Andreas; Aslan, Mahmut; Özgör, Bilge; Szabo, Nora; Güngör, Serdal; Nair, A; Maroofian, Reza; Yaramış, Ahmet; Sönmezler, Ece; Chinnery, Patrick; Hathazi, D; Müller, Js; Houlden, Henry; Laurie, S; Matalonga, Leslie; Yiş, Uluç; Schon, Katerina; Paramonov, İda; Polat, Ayşe İpek; Gao, Fei; Rieger, A; Yılmaz, E; Beltran, Sergi; Arslan, Nur; Oktay, Yavuz; Ekinci, Burcu; Töpf, Ana; Pulat Edem, Pınar; Hız, Ayşe Semra; Horvath, Rita
Conference
2007 8th International Conference on Telecommunications in Modern Satellite, Cable and Broadcasting Services Telecommunications in Modern Satellite, Cable and Broadcasting Services, 2007. TELSIKS 2007. 8th International Conference on. :631-634 Sep, 2007
Academic Journal
Kleefeld F; Department of Neurology, Berlin Institute of Health (BIH), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt, Universität zu Berlin, 10117 Berlin, Germany.; Department of Neurology, Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, 44789 Bochum, Germany.; Cross E; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Lagos D; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Walli S; Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Schoser B; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, 80336 Munich, Germany.; Hentschel A; Leibniz-Institut für Analytische Wissenschaften-ISAS e.V., 44139 Dortmund, Germany.; Ruck T; Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Nelke C; Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.; Hahn K; Department of Neurology, Berlin Institute of Health (BIH), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt, Universität zu Berlin, 10117 Berlin, Germany.; Hathazi D; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.; Mammen AL; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Casal-Dominguez M; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Gut M; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona Institute of Science and Technology (BIST), Universitat Pompeu Fabra (UPF), 08002 Barcelona, Spain.; Gut IG; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona Institute of Science and Technology (BIST), Universitat Pompeu Fabra (UPF), 08002 Barcelona, Spain.; Heath S; Centro Nacional de Análisis Genómico (CNAG), 08028 Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona Institute of Science and Technology (BIST), Universitat Pompeu Fabra (UPF), 08002 Barcelona, Spain.; Schänzer A; Institute of Neuropathology, Justus Liebig University, 35392 Giessen, Germany.; Translational Neuroscience Network Giessen (TNGG), Justus Liebig University Giessen, 35392 Giessen, Germany.; Goebel HH; Department of Neuropathology, Berlin Institute of Health (BIH), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Pinal-Fernandez I; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Roos A; Leibniz-Institut für Analytische Wissenschaften-ISAS e.V., 44139 Dortmund, Germany.; Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen, 45147 Essen, Germany.; Brain and Mind Research Institute, Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Preuße C; Department of Neuropathology, Berlin Institute of Health (BIH), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Stenzel W; Department of Neuropathology, Berlin Institute of Health (BIH), Charité-Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, 10117 Berlin, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Wiessner M; Roos A; Munn CJ; Viswanathan R; Whyte T; Cox D; Schoser B; Sewry C; Roper H; Phadke R; Marini Bettolo C; Barresi R; Charlton R; Bonnemann CG; Abath Neto O; Reed UC; Zanoteli E; Araujo Martins Moreno C; Ertl-Wagner B; Stucka R; De Goede C; Borges da Silva T; Hathazi D; Dell'Aica M; Zahedi RP; Thiele S; Muller J; Kingston H; Muller S; Curtis E; Walter MC; Strom TM; Straub V; Bushby K; Muntoni F; Swan LE; Lochmuller H; Senderek J
Am J Hum Genet
American Journal of Human Genetics
Am. J. Hum. Genet. 100, 523-536 (2017)
Wiessner, M, Roos, A, Munn, C J, Viswanathan, R, Whyte, T, Cox,D , Schoser, B, Sewry, C, Roper, H, Phadke, R, Marini Bettolo, C, Barresi, R, Charlton, R, Bönnemann, C G, Abath Neto, O, Reed, U C, Zanoteli, E, Araújo Martins Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges da Silva, T, Hathazi , D , Dell'Aica, M, Zahedi, R P, Thiele, S, Müller, J, Kingston, H, Müller, S, Curtis, E, Walter, M C, Strom, T M, Straub, V, Bushby, K, Muntoni, F, Swan, L E, Lochmüller, H & Senderek, J 2017, 'Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment', American Journal of Human Genetics, vol. 100, no. 3, pp. 523-536. https://doi.org/10.1016/j.ajhg.2017.01.024
American Journal of Human Genetics
Am. J. Hum. Genet. 100, 523-536 (2017)
Wiessner, M, Roos, A, Munn, C J, Viswanathan, R, Whyte, T, Cox,
Academic Journal
Matthew J. Jennings; Denisa Hathazi; Chi D. L. Nguyen; Benjamin Munro; Ute Münchberg; Robert Ahrends; Annette Schenck; Ilse Eidhof; Erik Freier; Matthis Synofzik; Rita Horvath; Andreas Roos
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Academic Journal
Podmanicky O; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.; Gao F; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.; Munro B; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.; Jennings MJ; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.; Department of Neurology, Columbia University, 630 West 168th St, New York, NY 10032, United States.; Boczonadi V; Biosciences Institute, International Centre for Life, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom.; Hathazi D; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.; Mueller JS; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.; Dubowitz Neuromuscular Centre, Department of Neuropathology, Institute of Neurology, Queen Square, London, WC1N 3BG, United Kingdom.; Horvath R; Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge, Ed Adrian Building, Robinson Way, Cambridge, CB2 0PY, United Kingdom.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Kleefeld F; Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Charitéplatz 1, 10117, Berlin, Germany.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Pinal-Fernandez I; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Mammen AL; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Casal-Dominguez M; Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, 20892, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Hathazi D; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Melchert S; Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Hahn K; Department of Neurology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Charitéplatz 1, 10117, Berlin, Germany.; Sickmann A; Leibniz-Institut Für Analytische Wissenschaften-ISAS E.V., 44139, Dortmund, Germany.; Muselmann-Genschow C; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Charitéplatz 1, 10117, Berlin, Germany.; Hentschel A; Leibniz-Institut Für Analytische Wissenschaften-ISAS E.V., 44139, Dortmund, Germany.; Preuße C; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Charitéplatz 1, 10117, Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Augustenburger Platz 1, 13353, Berlin, Germany.; Roos A; Pediatric Neurology, Faculty of Medicine, University Children's Hospital, University of Duisburg-Essen, Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, K1H 8L1, Canada.; Schoser B; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.; Stenzel W; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität Zu Berlin, Berlin Institute of Health (BIH), Charitéplatz 1, 10117, Berlin, Germany. Werner.Stenzel@charite.de.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
Academic Journal
Neuromuscular Disorders. 29:S124-S125
Academic Journal
Neuromuscular Disorders. 30:S48-S48
Academic Journal
Russell, Alistair B.; LeRoux, Michele; Hathazi, Krisztina; Agnello, Danielle M.; Ishikawa, Takahiko; Wiggins, Paul A.; Wai, Sun Nyunt; Mougous, Joseph D.
Nature. 496(7446):508-512
Academic Journal
Phan V; Leibniz Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.; Hathazi D; Leibniz Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, UK.; Preuße C; Charité Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neuropathology, Berlin, Germany.; Department of Neurology with Institute for Translational Neurology, University Hospital Münster, Münster, Germany.; Czech A; Leibniz Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.; Freier E; Leibniz Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.; Shema G; Leibniz Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.; Zahedi RP; Leibniz Institut für Analytische Wissenschaften -ISAS- e.V., Dortmund, Germany.; Manitoba Centre for Proteomics and Systems Biology, Department of Internal Medicine, Department of Biochemistry and Medical Genetics, CancerCare Manitoba Research Institute, University of Manitoba, Winnipeg, MB, Canada.; Roos A; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, Centre for Neuromuscular Disorders in Children, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7609829 Publication Model: Print Cited Medium: Internet ISSN: 1365-2990 (Electronic) Linking ISSN: 03051846 NLM ISO Abbreviation: Neuropathol Appl Neurobiol Subsets: MEDLINE
Academic Journal
Neuromuscular Disorders. 27:S140-S141
Academic Journal
Journal of Electrical and Electronics Engineering, Vol 1, Iss 1, Pp 11-14 (2008)
Academic Journal
Hathazi D; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0PY, UK.; Cox D; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK.; D'Amico A; Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, 00146 Rome, Italy.; Tasca G; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.; Charlton R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK.; Carlier RY; AP-HP, Service d'Imagerie Médicale, Raymond Poincaré Hospital, 92380 Garches, France.; Inserm U 1179, University of Versailles Saint-Quentin-en-Yvelines (UVSQ), 78180 Versailles, France.; Baumann J; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Kollipara L; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Zahedi RP; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Segal Cancer Proteomics Centre, Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, QC H3T 1E2, Canada.; Feldmann I; Leibniz -Institut für Analytische Wissenschaften - ISAS - e.V, Dortmund, Germany.; Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France.; Torella A; Dipartimento di Medicina di Precisione, Università degli Studi della Campania 'Luigi Vanvitelli', 80138 Napoli, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.; Cohn R; SickKids Research Institute, Department of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada.; Robinson E; Department of molecular Physiology and Cell Signalling, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, L69 7BE, UK.; Ricci F; Department of molecular Physiology and Cell Signalling, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, L69 7BE, UK.; Jungbluth H; Guy's and St Thomas' NHS Trust, King's College London, London, SE1 7EH, UK.; Fattori F; Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, 00146 Rome, Italy.; Boland A; Centre National de Recherche en Génomique Humaine (CNRGH) (A.B., J.F.D.), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, 91000 Evry, France.; O'Connor E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.; Horvath R; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge, CB2 0PY, UK.; Barresi R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, International Centre for Life, Newcastle upon Tyne, NE1 3BZ, UK.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, 79095 Freiburg, Germany.; Urtizberea A; Hôpital Marin de Hendaye, 64701 Hendaye, France.; Jacquemont ML; Unité de Génétique Médicale, Pôle Femme-Mère-Enfant, Groupe Hospitalier Sud Réunion, CHU de La Réunion, 97410 La Réunion, France.; Nelson I; Sorbonne Université, Inserm UMRS974, Centre de Recherche en Myologie, Institut de Myologie, 75013 Paris, France.; Swan L; Department of molecular Physiology and Cell Signalling, Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool, L69 7BE, UK.; Bonne G; Sorbonne Université, Inserm UMRS974, Centre de Recherche en Myologie, Institut de Myologie, 75013 Paris, France.; Roos A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada.; Department of Pediatric Neurology, University Hospital Essen, University of Duisburg-Essen, Faculty of Medicine, 45147 Essen, Germany.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
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[검색어] Hathazi, D.
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