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1دورية أكاديمية
المؤلفون: Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Sandra Gillner, Carl Rudolf Blankart, Edith Sky Gross, Gulcin Gumus, Elena Mitova, Stefan Stefanov, Georgi Stefanov, Rumen Stefanov
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-19 (2024)
مصطلحات موضوعية: Rare diseases, Machine learning, Artificial intelligence, European reference networks, Diagnosis, Diagnostic delay, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية 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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3دورية أكاديمية
المؤلفون: Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini
المصدر: PLoS ONE, Vol 18, Iss 11, p e0293503 (2023)
وصف الملف: electronic resource
العلاقة: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0293503&type=printableTest; https://doaj.org/toc/1932-6203Test
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4دورية أكاديمية
المؤلفون: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: Rare diseases, Systematic literature reviews, Treatment knowledge-base, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01493-7Test; https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 2, p 31 (2022)
مصطلحات موضوعية: newborn screening, NBS, rare diseases, access inequality, Europe, Slovenia, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Olga Romantsik, Alex Adusei Agyemang, Snjolaug Sveinsdóttir, Sigurbjörg Rutardóttir, Bo Holmqvist, Magnus Cinthio, Mattias Mörgelin, Gulcin Gumus, Helena Karlsson, Stefan R. Hansson, Bo Åkerström, David Ley, Magnus Gram
المصدر: Journal of Neuroinflammation, Vol 16, Iss 1, Pp 1-15 (2019)
مصطلحات موضوعية: Intraventricular hemorrhage, Hemoglobin, α1-microglobulin, Oxidative stress, Damage to the immature brain, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12974-019-1486-4Test; https://doaj.org/toc/1742-2094Test
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7دورية أكاديمية
المؤلفون: Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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8دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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9دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base
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10دورية أكاديمية
المؤلفون: Antonio Atalaia (9236238), Rachel Thompson (3597671), Alberto Corvo (9236241), Leigh Carmody (4003100), Davide Piscia (9236244), Leslie Matalonga (2044255), Alfons Macaya (313600), Angela Lochmuller (9236247), Bertrand Fontaine (213972), Birte Zurek (150135), Carles Hernandez-Ferrer (1364328), Carola Reinhard (9984041), David Gómez-Andrés (607516), Jean-François Desaphy (5656183), Katherine Schon (9236253), Katja Lohmann (228326), Matthew J. Jennings (9236256), Matthis Synofzik (276961), Olaf Riess (110686), Rabah Ben Yaou (4739442), Teresinha Evangelista (332775), Thiloka Ratnaike (9236259), Virginie Bros-Facer (252132), Gulcin Gumus (6813893), Rita Horvath (4474222), Patrick Chinnery (271096), Steven Laurie (9236262), Holm Graessner (524233), Peter Robinson (2604034), Hanns Lochmuller (5280071), Sergi Beltran (25221), Gisèle Bonne (168037)
مصطلحات موضوعية: Medicine, Biotechnology, Cancer, Science Policy, Infectious Diseases, Chemical Sciences not elsewhere classified, Information Systems not elsewhere classified, Rare diseases, Systematic literature reviews, Treatment knowledge-base