학술논문
'학술논문'
에서 검색결과 2,854건 | 목록
1~10
Academic Journal
Journal of neuromuscular diseases. 2(1):63-72
Academic Journal
Sobey, M.; Hodgkinson, V.; Westbury, G.; Brais, B.; Campbell, C.; Castro-Codesal, M.; Crone, M.; Dojeiji, S.; Genge, A.; Gonorazky, H.; Johnston, W.; Kolski, H.; Lochmüller, H.; Mah, J.; McAdam, L.; O'Connell, C.; O'Ferrall, E.K.; Oskoui, M.; Pfeffer, G.; Phan, C.
Neuromuscular Disorders. 33:S135-S136
Academic Journal
Spitali, Pietro; Zaharieva, Irina; Bohringer, Stefan; Hiller, Monika; Chaouch, Amina; Roos, Andreas; Scotton, Chiara; Claustres, Mireille; Bello, Luca; Hoffman, Eric; Koeks, Zaida; Eka Suchiman, H; Cirak, Sebahattin; Scoto, Mariacristina; Reza, Mojgan; t Hoen, Peter; Niks, Erik; Tuffery-Giraud, Sylvie; Lochmüller, Hanns; Ferlini, Alessandra; Muntoni, Francesco; Aartsma-Rus, Annemieke; McDonald, Craig
European Journal of Human Genetics. 28(6)
Academic Journal
Lindsey Van Haute; Emily O’Connor; Héctor Díaz-Maldonado; Benjamin Munro; Kiran Polavarapu; Daniella H. Hock; Gautham Arunachal; Alkyoni Athanasiou-Fragkouli; Mainak Bardhan; Magalie Barth; Dominique Bonneau; Nicola Brunetti-Pierri; Gerarda Cappuccio; Nikeisha J. Caruana; Natalia Dominik; Himanshu Goel; Guy Helman; Henry Houlden; Guy Lenaers; Karine Mention; David Murphy; Bevinahalli Nandeesh; Catarina Olimpio; Christopher A. Powell; Veeramani Preethish-Kumar; Vincent Procaccio; Rocio Rius; Pedro Rebelo-Guiomar; Cas Simons; Seena Vengalil; Maha S. Zaki; Alban Ziegler; David R. Thorburn; David A. Stroud; Reza Maroofian; John Christodoulou; Claes Gustafsson; Atchayaram Nalini; Hanns Lochmüller; Michal Minczuk; Rita Horvath
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Strandberg, Kristin; Ayoglu, Burcu; Roos, A.; Reza, M.; Niks, E.; Signorelli, M.; Fasterius, Erik, 1987; Pontén, F.; Lochmüller, H.; Domingos, J.; Ala, P.; Muntoni, F.; Aartsma-Rus, A.; Spitali, P.; Nilsson, Peter; Al-Khalili Szigyarto, Cristina
Journal of Neuromuscular Diseases. 7(3):231-246
Academic Journal
Atalaia, A.; Thompson, R.; Matalonga, L.; Hernandez-Ferrer, C.; Corvo, A.; Carmody, L.; Zurek, B.; Yaou, R Ben; Horvath, R.; Graessner, H.; Riess, O.; Robinson, P.; Lochmüller, H.; Beltran, S.; Bonne, G.
Neuromuscular Disorders. 33:S142-S142
Academic Journal
Roos, A.; van der Ven, P.; Alrohaif, H.; Kölbel, H.; Heil, L.; Della Marina, A.; Weis, J.; Töpf, A.; Vorgerd, M.; Schara-Schmidt, U.; Gangfuss, A.; Evangelista, T.; Hentschel, A.; Grüneboom, A.; Fuerst, D.; Kuechler, A.; Tzschach, A.; Depienne, C.; Lochmüller, H.
Neuromuscular Disorders. 33:S130-S130
Academic Journal
Köhler, Sebastian; Carmody, Leigh; Vasilevsky, Nicole; Jacobsen, Julius OB; Danis, Daniel; Gourdine, Jean-Philippe; Gargano, Michael; Harris, Nomi L; Matentzoglu, Nicolas; McMurry, Julie A; Osumi-Sutherland, David; Cipriani, Valentina; Balhoff, James P; Conlin, Tom; Blau, Hannah; Baynam, Gareth; Palmer, Richard; Gratian, Dylan; Dawkins, Hugh; Segal, Michael; Jansen, Anna C; Muaz, Ahmed; Chang, Willie H; Bergerson, Jenna; Laulederkind, Stanley JF; Yüksel, Zafer; Beltran, Sergi; Freeman, Alexandra F; Sergouniotis, Panagiotis I; Durkin, Daniel; Storm, Andrea L; Hanauer, Marc; Brudno, Michael; Bello, Susan M; Sincan, Murat; Rageth, Kayli; Wheeler, Matthew T; Oegema, Renske; Lourghi, Halima; Della Rocca, Maria G; Thompson, Rachel; Castellanos, Francisco; Priest, James; Cunningham-Rundles, Charlotte; Hegde, Ayushi; Lovering, Ruth C; Hajek, Catherine; Olry, Annie; Notarangelo, Luigi; Similuk, Morgan; Zhang, Xingmin A; Gómez-Andrés, David; Lochmüller, Hanns; Dollfus, Hélène; Rosenzweig, Sergio; Marwaha, Shruti; Rath, Ana; Sullivan, Kathleen; Smith, Cynthia; Milner, Joshua D; Leroux, Dorothée; Boerkoel, Cornelius F; Klion, Amy; Carter, Melody C; Groza, Tudor; Smedley, Damian; Haendel, Melissa A; Mungall, Chris; Robinson, Peter N
Nucleic Acids Research. 47(D1)
Academic Journal
Schwartz O; Department of Pediatric Neurology, Münster University Hospital, Münster, Germany.; Vill K; Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Pfaffenlehner M; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.; Behrens M; Institute of Medical Biometry and Statistics, Faculty of Medicine and Medical Center, University of Freiburg, Freiburg, Germany.; Freiburg Centre for Data Analysis and Modelling, University of Freiburg, Freiburg, Germany.; Weiß C; Department of Pediatric Neurology and Center for Chronically Sick Children, Charité, University Medicine Berlin, Berlin, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Friese J; Department of Neuropediatrics, Faculty of Medicine, University Hospital Bonn, Bonn, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig University, Giessen, Germany.; Ziegler A; Department of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Illsinger S; Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.; Smitka M; Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; von Moers A; Department of Pediatrics und Neuropediatrics, Deutsches Rotes Kreuz Kliniken Berlin, Berlin, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Schreiber G; Department of Pediatric Neurology, Klinikum Kassel, Kassel, Germany.; Kaiser N; Department of Paediatric Neurology, University Children's Hospital, Tübingen, Germany.; Wilichowski E; Department of Paediatrics and Pediatric Neurology, University Medical Centre, Georg August University Göttingen, Göttingen, Germany.; Flotats-Bastardas M; Department of Pediatric Neurology, Saarland University Hospital, Homburg, Germany.; Husain RA; Department of Neuropediatrics, Jena University Hospital, Jena, Germany.; Baumann M; Division of Pediatric Neurology, Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.; Köhler C; St. Josef-Hospital, Universitätsklinik für Kinder- und Jugendmedizin, Abteilung für Neuropädiatrie und Sozialpädiatrie, Ruhr-Universität Bochum, Bochum, Germany.; Trollmann R; Division of Pediatric Neurology, Department of Pediatrics, Friedrich-Alexander-University of Erlangen-Nürnberg, Erlangen, Germany.; Schwerin-Nagel A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.; Eisenkölbl A; Department of Paediatrics and Adolescent Medicine, Kepler University Hospital, Johannes Kepler University Linz, Linz, Austria.; Schimmel M; Pediatric Neurology, Pediatrics and Adolescent Medicine, University Medical Center Augsburg, Augsburg, Germany.; Fleger M; Department of Pediatrics, State Hospital of Bregenz, Bregenz, Austria.; Kauffmann B; Departement of Pediatric Neurology, Eltern-Kind-Zentrum Prof. Hess, Central Hospital Bremen, Bremen, Germany.; Wiegand G; Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg Nord-Heidberg, Hamburg, Germany.; Baumgartner M; Department of Pediatrics and Adolescent Medicine, Ordensklinikum Linz, Barmherzige Schwestern, Linz, Austria.; Rauscher C; Department of Pediatrics and Adolescent Medicine, Private Medical University of Salzburg, Salzburg, Austria.; Cirak S; Division of Pediatric Neurology, Metabolics and Social Pediatrics, Department of Pediatrics and Adolescent Medicine, Ulm University Medical Center, Ulm University, Ulm, Germany.; Gläser D; MVZ Genetikum GmbH, Center for Human Genetics, Neu-Ulm, Germany.; Bernert G; Department of Pediatrics, Clinic Favoriten, Vienna, Austria.; Hagenacker T; Department of Neurology, and Center for Translational Neuro and Behavioral Sciences, University Medicine Essen, Essen, Germany.; Goldbach S; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.; Probst-Schendzielorz K; Deutsche Gesellschaft für Muskelkranke, Freiburg, Germany.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital and Brain and Mind Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Müller-Felber W; Department of Pediatric Neurology and Developmental Medicine and Ludwig Maximilians University Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, Ludwig Maximilians University Hospital, Ludwig Maximilians University, Munich, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Cdhildren and Adolescents, Center for Translational Neuro and Behavioral Sciences, University of Duisburg-Essen, Essen, Germany.; Walter MC; Friedrich Baur Institute at the Department of Neurology, University Hospital, Ludwig Maximilians University, Munich, Munich, Germany.; Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Pechmann A; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE
Academic Journal
Adam Jackson; Sheng-Jia Lin; Elizabeth A. Jones; Kate E. Chandler; David Orr; Celia Moss; Zahra Haider; Gavin Ryan; Simon Holden; Mike Harrison; Nigel Burrows; Wendy D. Jones; Mary Loveless; Cassidy Petree; Helen Stewart; Karen Low; Deirdre Donnelly; Simon Lovell; Konstantina Drosou; Gaurav K. Varshney; Siddharth Banka; J.C. Ambrose; P. Arumugam; R. Bevers; M. Bleda; F. Boardman-Pretty; C.R. Boustred; H. Brittain; M.A. Brown; M.J. Caulfield; G.C. Chan; A. Giess; J.N. Griffin; A. Hamblin; S. Henderson; T.J.P. Hubbard; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; A. Kousathanas; L. Lahnstein; A. Lakey; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; M. McEntagart; F. Minneci; J. Mitchell; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; P. O‘Donovan; C.A. Odhams; C. Patch; D. Perez-Gil; M.B. Pereira; J. Pullinger; T. Rahim; A. Rendon; T. Rogers; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; S.C. Smith; A. Sosinsky; A. Stuckey; M. Tanguy; A.L. Taylor Tavares; E.R.A. Thomas; S.R. Thompson; A. Tucci; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki; Olaf Riess; Tobias B. Haack; Holm Graessner; Birte Zurek; Kornelia Ellwanger; Stephan Ossowski; German Demidov; Marc Sturm; Julia M. Schulze-Hentrich; Rebecca Schüle; Christoph Kessler; Melanie Wayand; Matthis Synofzik; Carlo Wilke; Andreas Traschütz; Ludger Schöls; Holger Hengel; Peter Heutink; Han Brunner; Hans Scheffer; Nicoline Hoogerbrugge; Alexander Hoischen; Peter A.C. ’t Hoen; Lisenka E.L.M. Vissers; Christian Gilissen; Wouter Steyaert; Karolis Sablauskas; Richarda M. de Voer; Erik-Jan Kamsteeg; Bart van de Warrenburg; Nienke van Os; Iris te Paske; Erik Janssen; Elke de Boer; Marloes Steehouwer; Burcu Yaldiz; Tjitske Kleefstra; Anthony J. Brookes; Colin Veal; Spencer Gibson; Marc Wadsley; Mehdi Mehtarizadeh; Umar Riaz; Greg Warren; Farid Yavari Dizjikan; Thomas Shorter; Ana Töpf; Volker Straub; Chiara Marini Bettolo; Sabine Specht; Jill Clayton-Smith; Elizabeth Alexander; Laurence Faivre; Christel Thauvin; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Yannis Duffourd; Emilie Tisserant; Ange-Line Bruel; Christine Peyron; Aurore Pélissier; Sergi Beltran; Ivo Glynne Gut; Steven Laurie; Davide Piscia; Leslie Matalonga; Anastasios Papakonstantinou; Gemma Bullich; Alberto Corvo; Carles Garcia; Marcos Fernandez-Callejo; Carles Hernández; Daniel Picó; Ida Paramonov; Hanns Lochmüller; Gulcin Gumus; Virginie Bros-Facer; Ana Rath; Marc Hanauer; Annie Olry; David Lagorce; Svitlana Havrylenko; Katia Izem; Fanny Rigour; Giovanni Stevanin; Alexandra Durr; Claire-Sophie Davoine; Léna Guillot-Noel; Anna Heinzmann; Giulia Coarelli; Gisèle Bonne; Teresinha Evangelista; Valérie Allamand; Isabelle Nelson; Rabah Ben Yaou; Corinne Metay; Bruno Eymard; Enzo Cohen; Antonio Atalaia; Tanya Stojkovic; Milan Macek, Jr.; Marek Turnovec; Dana Thomasová; Radka Pourová Kremliková; Vera Franková; Markéta Havlovicová; Vlastimil Kremlik; Helen Parkinson; Thomas Keane; Dylan Spalding; Alexander Senf; Peter Robinson; Daniel Danis; Glenn Robert; Alessia Costa; Christine Patch; Mike Hanna; Henry Houlden; Mary Reilly; Jana Vandrovcova; Francesco Muntoni; Irina Zaharieva; Anna Sarkozy; Vincent Timmerman; Jonathan Baets; Liedewei Van de Vondel; Danique Beijer; Peter de Jonghe; Vincenzo Nigro; Sandro Banfi; Annalaura Torella; Francesco Musacchia; Giulio Piluso; Alessandra Ferlini; Rita Selvatici; Rachele Rossi; Marcella Neri; Stefan Aretz; Isabel Spier; Anna Katharina Sommer; Sophia Peters; Carla Oliveira; Jose Garcia Pelaez; Ana Rita Matos; Celina São José; Marta Ferreira; Irene Gullo; Susana Fernandes; Luzia Garrido; Pedro Ferreira; Fátima Carneiro; Morris A. Swertz; Lennart Johansson; Joeri K. van der Velde; Gerben van der Vries; Pieter B. Neerincx; Dieuwke Roelofs-Prins; Sebastian Köhler; Alison Metcalfe; Alain Verloes; Séverine Drunat; Caroline Rooryck; Aurelien Trimouille; Raffaele Castello; Manuela Morleo; Michele Pinelli; Alessandra Varavallo; Manuel Posada De la Paz; Eva Bermejo Sánchez; Estrella López Martín; Beatriz Martínez Delgado; F. Javier Alonso García de la Rosa; Andrea Ciolfi; Bruno Dallapiccola; Simone Pizzi; Francesca Clementina Radio; Marco Tartaglia; Alessandra Renieri; Elisa Benetti; Peter Balicza; Maria Judit Molnar; Ales Maver; Borut Peterlin; Alexander Münchau; Katja Lohmann; Rebecca Herzog; Martje Pauly; Alfons Macaya; Anna Marcé-Grau; Andres Nascimiento Osorio; Daniel Natera de Benito; Rachel Thompson; Kiran Polavarapu; David Beeson; Judith Cossins; Pedro M. Rodriguez Cruz; Peter Hackman; Mridul Johari; Marco Savarese; Bjarne Udd; Rita Horvath; Gabriel Capella; Laura Valle; Elke Holinski-Feder; Andreas Laner; Verena Steinke-Lange; Evelin Schröck; Andreas Rump
HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
검색 결과 제한하기
제한된 항목
[검색어] Lochmüller, H
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어