학술논문
'학술논문'
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10~20
Academic Journal
Lischka A; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann K; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Record CJ; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Dohrn MF; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Laššuthová P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Dey D; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Beijer D; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Šoukalová J; Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.; Laura M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Rossor AM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Mazanec R; Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.; Van Lent J; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; Tomaselli PJ; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Ungelenk M; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Debus KY; Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.; Feely SME; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA.; Gläser D; Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.; Jagadeesh S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Martin M; Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.; Govindaraj GM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Singhi P; Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.; Baineni R; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Biswal N; Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.; Ibarra-Ramírez M; Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.; Bonduelle M; Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.; Gess B; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany.; Romero Sánchez J; Pediatría, Clínica Premium, 29601 Marbella, Spain.; Suthar R; Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.; Udani V; Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.; Nalini A; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Unnikrishnan G; Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.; Marques W Junior; Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.; Mercier S; CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.; Procaccio V; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Bris C; Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.; Suresh B; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Reddy V; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.; Skorupinska M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Bonello-Palot N; INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.; Mochel F; Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.; Dahl G; Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.; Sasidharan K; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Devassikutty FM; Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.; Rodovalho Doriqui MJ; Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil.; Müller-Felber W; Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.; Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Dufke A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.; Abele M; Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany.; Stucka R; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Siddiqi S; Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.; Ullah N; Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan.; Spranger S; MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.; Chiabrando D; Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy.; Bolgül BS; Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey.; Parman Y; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Seeman P; Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.; Lampert A; Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany.; Schulz JB; Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.; JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany.; Wood JN; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Cox JJ; Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.; Auer-Grumbach M; Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria.; Timmerman V; Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.; de Winter J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Themistocleous AC; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Shy M; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.; Bennett DL; Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.; Baets J; Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.; Hübner CA; Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.; Leipold E; Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany.; Züchner S; Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL 33136, USA.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.; Çakar A; Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Senderek J; Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.; Hornemann T; Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.; Woods CG; Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.; Reilly MM; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, 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
Periodical
Roos, Andreas; Elbracht, Miriam; Baudis, Michael; Senderek, Jan; Schönherr, Nadine; Eggermann, Thomas; Schüler, Herdit M.
American Journal of Medical Genetics. Part A; September 2008, Vol. 146 Issue: 18 p2417-2420, 4p
Academic Journal
Amin AK; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Krause J; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Pauwelsstr. 30, 52074, Aachen, Germany. teggermann@ukaachen.de.
Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE
Academic Journal
Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH University Aachen, Pauwelsstr. 3, D-52074 Aachen, Germany.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Der Internist: Organ des Berufsverbandes Deutscher InternistenOrgan der Deutschen Gesellschaft für Innere Medizin. 59(8):756-765
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Academic Journal
David Monk; Joannella Morales; Johan T. den Dunnen; Silvia Russo; Franck Court; Dirk Prawitt; Thomas Eggermann; Jasmin Beygo; Karin Buiting; Zeynep Tümer; the Nomenclature group of the European Network for Human Congenital Imprinting Disorders
Epigenetics, Vol 13, Iss 2, Pp 117-121 (2018)
Academic Journal
Schlaich E; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Hubens WHG; Institute for Stem Cell Biology, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Helmholtz Institute for Biomedical Engineering, RWTH Aachen University, Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genome Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE
Academic Journal
van den Bruck, Rhea; Weil, Patrick P.; Ziegenhals, Thomas; Schreiner, Philipp; Juranek, Stefan; Gödde, Daniel; Vogel, Silvia; Schuster, Frauke; Orth, Valerie; Dörner, Johannes; Pembaur, Daniel; Röper, Meike; Störkel, Stefan; Zirngibl, Hubert; Wirth, Stefan; Jenke, Andreas C. W.; Postberg, Jan; Boy, Nikolas; Heringer, Jana; Haege, Gisela; Glahn, Esther M.; Hoffmann, Georg F.; Garbade, Sven F.; Burgard, Peter; Kölker, Stefan; Chao, Cho-Ming; Yahya, Faady; Moiseenko, Alena; Shrestha, Amit; Ahmadvand, Negah; Quantius, Jennifer; Wilhelm, Jochen; El-Agha, Elie; Zimmer, Klaus-Peter; Bellusci, Saverio; Staufner, Christian; Kölker, Stefan; Prokisch, Holger; Hoffmann, Georg F.; Seeliger, Stephan; Müller, Matthias; Hippe, Andreas; Steinkraus, Henrik; Wauer, Roland; Lachmann, Burkhard; Hofmann, Sigrun R.; Hedrich, Christian M.; Zierk, Jakob; Arzideh, Farhad; Haeckel, Rainer; Rascher, Wolfgang; Rauh, Manfred; Metzler, Markus; Thieme, Sebastian; Bandoła, Joanna; Richter, Cornelia; Ryser, Martin; Jamal, Arshad; Ashton, Michelle P.; von Bonin, Malte; Kuhn, Matthias; Hedrich, Christian M.; Bonifacio, Ezio; Berner, Reinhard; Brenner, Sebastian; Hammersen, Johanna; Has, Cristina; Naumann-Bartsch, Nora; Stachel, Daniel; Kiritsi, Dimitra; Söder, Stephan; Tardieu, Mathilde; Metzler, Markus; Bruckner-Tuderman, Leena; Schneider, Holm; Bohne, F.; Langer, D.; Cencic, R.; Eggermann, T.; Zechner, U.; Pelletier, J.; Zepp, F.; Enklaar, T.; Prawitt, D.; Pech, Martin; Weckmann, Markus; Heinsen, Femke-Anouska; Franke, Andre; Happle, Christine; Dittrich, Anna-Maria; Hansen, Gesine; Fuchs, Oliver; von Mutius, Erika; Oliver, Brian G.; Kopp, Matthias V.; Paret, Claudia; Russo, Alexandra; Theruvath, Johanna; Keller, Bettina; El Malki, Khalifa; Lehmann, Nadine; Wingerter, Arthur; Neu, Marie A.; Aslihan, Gerhold-Ay; Wagner, Wolfgang; Sommer, Clemens; Pietsch, Torsten; Seidmann, Larissa; Faber, Jörg; Schreiner, Felix; Ackermann, Merle; Michalik, Michael; Rother, Eva; Bilkei-Gorzo, Andras; Racz, Ildiko; Bindila, Laura; Lutz, Beat; Dötsch, Jörg; Zimmer, Andreas; Woelfle, Joachim; Fischer, Hendrik S.; Ullrich, Tim L.; Bührer, Christoph; Czernik, Christoph; Schmalisch, Gerd; Stein, Robert; Hofmann, Sigrun R.; Hagenbuchner, Judith; Kiechl-Kohlendorfer, Ursula; Obexer, Petra; Ausserlechner, Michael J.; Loges, Niki T.; Frommer, Adrien Tobias; Wallmeier, Julia; Omran, Heymut; Öner-Sieben, Soner; Gimpfl, Martina; Rozman, Jan; Irmler, Martin; Beckers, Johannes; De Angelis, Martin Hrabe; Roscher, Adelbert; Wolf, Eckhard; Ensenauer, Regina; Nemes, Karolina; Frühwald, Michael; Hasselblatt, Martin; Siebert, Reiner; Kordes, Uwe; Kool, Marcel; Wang, Haicui; Hardy, Holly; Refai, Osama; Barwick, Katy E. S.; Zimmerman, Holly H.; Weis, Joachim; Baple, Emma L.; Crosby, Andrew H.; Cirak, Sebahattin; Hellmuth, C.; Uhl, O.; Standl, M.; Heinrich, J.; Thiering, E.; Koletzko, B.; Blümel, Lena; Kerl, Kornelius; Picard, Daniel; Frühwald, Michael C.; Liebau, Max C.; Reifenberger, Guido; Borkhardt, Arndt; Hasselblatt, Martin; Remke, Marc; Tews, D.; Wabitsch, M.; Fischer-Posovszky, P.; Westhoff, Mike-Andrew; Nonnenmacher, Lisa; Langhans, Julia; Schneele, Lukas; Trenkler, Nancy; Debatin, Klaus-Michael
Molecular and Cellular Pediatrics. May 2017 4(1):1-9
Academic Journal
Eggermann, T.; Begemann, M.; Elbracht, M.; Monk, D.; de Nanclares, G.P.; Kagami, M.; Giabicani, E.; Riccio, A.; Tümer, Z.; Kalish, J.M.; Tauber, M.; Duis, J.; Weksberg, R.; Maher, E.R.
In: Nature Reviews Disease Primers . (Nature Reviews Disease Primers, December 2023, 9(1))
Academic Journal
Bilo, L.; Dey, D.; Kurth, I.; Kraft, F.; Elbracht, M.; Begemann, M.; Eggermann, T.; Ochoa, E.; Lee, S.; Rodger, F.; Docquier, F.; Toribio, A.; Bottolo, L.; Maher, E.R.; Binder, G.; Fekete, G.
In: Clinical Epigenetics . (Clinical Epigenetics, December 2023, 15(1))
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