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1دورية أكاديمية
المؤلفون: Holm Graessner, Carola Reinhard, Tobias Bäumer, Annette Baumgärtner, Knut Brockmann, Norbert Brüggemann, Eva Bültmann, Jeanette Erdmann, Kirstin Heise, Günter Höglinger, Irina Hüning, Frank J. Kaiser, Christine Klein, Thomas Klopstock, Ingeborg Krägeloh-Mann, Markus Kraemer, Kerstin Luedtke, Martin Mücke, Thomas Musacchio, Andreas Nadke, Alma Osmanovic, Gabriele Ritter, Katharina Röse, Christopher Schippers, Ludger Schöls, Rebecca Schüle, Jörg B. Schulz, Joachim Sproß, Eveline Stasch, Gilbert Wunderlich, Alexander Münchau
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Rare neurological diseases, Optimal care, Interdisciplinary management, Healthcare settings, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Leukodystrophy, Metachromatic, Hematopoietic stem cell transplantation, Rare diseases, Europe, Healthcare disparities, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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3دورية أكاديمية
المؤلفون: Stephen Morris, Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Paola Giunti
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Health service use, Costs, Ataxia, Specialist centre, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Julie Vallortigara, Julie Greenfield, Barry Hunt, Deborah Hoffman, Carola Reinhard, Holm Graessner, Antonio Federico, Vinciane Quoidbach, Steve Morris, Paola Giunti
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Ataxia, Specialist centre, Care pathway, Patient survey, Rare diseases, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Helge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, Christian Krauth, Jürgen Deckert, Kirsten Haas, Lisa Pfister, Stefanie Witt, Christopher Schippers, Jan Dieris-Hirche, Tim Maisch, Oliver Tüscher, Lavinia Bârlescu, Alexandra Berger, Mark Berneburg, Vanessa Britz, Anna Deibele, Holm Graeßner, Harald Gündel, Gereon Heuft, Thomas Lücke, Christine Mundlos, Julia Quitmann, Frank Rutsch, Katharina Schubert, Jörg Bernhard Schulz, Susann Schweiger, Cornelia Zeidler, Lena Zeltner, Martina de Zwaan, Federica Akkaya, Christine Babka, Lisa Bannert, Anja Bärsch-Michelmann, Leonie Böhm, Folke Brinkmann, Monika Bullinger, Holger Cario, Moritz de Greck, Klaus-Michael Debatin, Katrin Dillmann-Jehn, Jutta Eymann, Julia Frisch, Anja Glode, Vega Gödecke, Corinna Grasemann, Eva Grauer, Astrid Haas, Lea Haisch, Isabell, Heinrich, Melissa Held, Julia Hennermann, Stephan Herpertz, Anne Herrmann-Werner, Julian Hett, Peter Heuschmann, Bettina Hilbig, Laura Holthöfer, Christiane Imhof, Florian Junne, Jan Kassubek, Kevin-Thomas Koschitzki, Heike Krassort, Birgit Kropff, Julia Kuhn, Philipp Latzko, Thomas Loew, Albert C. Ludolph, Torsten Meyer, Isabell Meyer dos Santos, Klaus Mohnike, Martina Monninger, Martin Mücke, Susanne Müller, Thomas Musacchio, Margret Nießen, Mariel Nöhre, Stephan Ott, Andrea Petermann-Meyer, Christina Pfeifer-Duck, Lea-Sophie Piduhn, Carina Rampp, Olaf Rieß, Kristina Schaubert, Annika Schmidt, Simone Schneider, Ludger Schoels, Martina Schwalba, Udo Selig, Alexandra Sroka, Toni Steinbüchel, Sebastian Stösser, Steffi Suchant, Kathrin Ungethüm, Matthias Vogel, Daniela Volk, Christoph Vollmuth, Solange Volnov, Thomas O.F. Wagner, Sabrina Walter, Bodo Warrings, Kamil Zajt, Karola Zenker, David Zhang, Stephan Zipfel, Lavinia Aurelia Bârlescu, Julia Hannah Quitmann, Jörg B. Schulz, Lena Margarete Zeltner
المصدر: EClinicalMedicine, Vol 65, Iss , Pp 102260- (2023)
مصطلحات موضوعية: Rare diseases, Diagnostic services, Mental health, Patient care team, Medically unexplained symptoms, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589537023004376Test; https://doaj.org/toc/2589-5370Test
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6دورية أكاديمية
المؤلفون: Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Transition, Rare disease, Pathway, Empowerment, Health literacy, Adolescent health, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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7دورية أكاديمية
المؤلفون: Birute Tumiene, Harm Peters, Bela Melegh, Borut Peterlin, Algirdas Utkus, Natalja Fatkulina, György Pfliegler, Holm Graessner, Sanja Hermanns, Maurizio Scarpa, Jean-Yves Blay, Sharon Ashton, Lucy McKay, Gareth Baynam
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-20 (2022)
مصطلحات موضوعية: People living with rare disorders, Rare disease awareness, Medical education and training, Patient empowerment, Interprofessional learning, Highly-specialized knowledge, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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8دورية أكاديمية
المؤلفون: 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
المصدر: HGG Advances, Vol 4, Iss 2, Pp 100186- (2023)
مصطلحات موضوعية: TSPEAR, Ectodermal dysplasia, Enamel knot, WNT10A, Hypodontia, Conical teeth, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247723000180Test; https://doaj.org/toc/2666-2477Test
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9دورية أكاديمية
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Rare diseases, Communication strategy, Educational webinars, Social media, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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10دورية أكاديمية
المؤلفون: Monika Benson, Alberto Albanese, Kailash P. Bhatia, Pascale Cavillon, Lorraine Cuffe, Kathrin König, Carola Reinhard, Holm Graessner
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Cervical dystonia, Patient journey, Rare disease, Patient survey, Patient communication, Access to treatment, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
النص الكامل