학술논문
'학술논문'
에서 검색결과 721건 | 목록
1~10
Academic Journal
Alberto Lopez-de la Rosa; Juan J. Telleria; Manuel Posada de la Paz; Isabel M. Hermosilla-Gimeno; Miren Agurtzane Rivas; Raúl Gilabert; Rosa M. Coco-Martín
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvo, Alberto; Fernandez-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martinez, Ines; Papakonstantinou, Anastasios; Pico-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayes, Monica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Remi; Alonso, Angel; Attimonelli, Marcella; Beroud, Christophe; Bros-Facer, Virginie; Buske, Orion J.; Canada-Pallares, Andres; Fernandez, Jose M.; Hansson, Mats G., 1952; Horvath, Rita; Jacobsen, Julius O. B.; Kaliyaperumal, Rajaram; Lair-Preterre, Severine; Licata, Luana; Lopes, Pedro; Lopez-Martin, Estrella; Mascalzoni, Deborah, 1973; Monaco, Lucia; Perez-Jurado, Luis A.; Posada de la Paz, Manuel; Rambla, Jordi; Rath, Ana; Riess, Olaf; Robinson, Peter N.; Salgado, David; Smedley, Damian; Spalding, Dylan; 't Hoen, Peter A. C.; Topf, Ana; Zaharieva, Irina; Graessner, Holm; Gut, Ivo G.; Lochmuller, Hanns; Beltran, Sergi
Human Mutation. 43(6):717-733
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)
Academic Journal
Lopez-de la Rosa A; Instituto de Oftalmobiología Aplicada (IOBA), Universidad de Valladolid, Campus Miguel Delibes, Paseo de Belén 17, E-47011, Valladolid, Spain.; Observatorio Nacional de Enfermedades Raras Oculares (ONERO), 47011, Valladolid, Spain.; Telleria JJ; Instituto de Biomedicina y Genética Molecular (IBGM), Universidad de Valladolid, 47001, Valladolid, Spain.; Facultad de Medicina, Universidad de Valladolid, 47001, Valladolid, Spain.; Posada de la Paz M; Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Hermosilla-Gimeno IM; Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Rivas MA; Observatorio Nacional de Enfermedades Raras Oculares (ONERO), 47011, Valladolid, Spain.; Gilabert R; Observatorio Nacional de Enfermedades Raras Oculares (ONERO), 47011, Valladolid, Spain.; Coco-Martín RM; Instituto de Oftalmobiología Aplicada (IOBA), Universidad de Valladolid, Campus Miguel Delibes, Paseo de Belén 17, E-47011, Valladolid, Spain. rosamcoco@uva.es.; Facultad de Medicina, Universidad de Valladolid, 47001, Valladolid, Spain. rosamcoco@uva.es.; RICORS de Enfermedades Inflamatorias, Carlos III Health Institute, 28220, Madrid, Spain. rosamcoco@uva.es.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
García Primo, P.; Santos Borbujo, J.; Martín Cilleros, M.V.; Martínez Velarte, M.; Lleras Muñoz, S.; Posada de la Paz, M.; Canal Bedia, R.
In Anales de Pediatria May 2014 80(5):285-292
Academic Journal
The BURQOL-RD Research Network; Kuhlmann, A.; Schmidt, T.; Treskova, M.; López-Bastida, J.; Linertová, R.; Oliva-Moreno, J.; Serrano-Aguilar, P.; Posada-de-la-Paz, M.; Kanavos, P.; Taruscio, D.; Schieppati, A.; Iskrov, G.; Péntek, M.; Delgado, C.; von der Schulenburg, J. M.; Persson, U.; Chevreul, K.; Fattore, G.
The European Journal of Health Economics, 2016 Apr 01. 17, S79-S87.
Academic Journal
Bejarano-Martín, Á.; Canal-Bedia, R.; Magán-Maganto, M.; Hernández-Fabián, A.; Calvarro-Castañeda, A.L.; Manso-De Dios, S.; Malmierca-García, P.; Diéz-Villoria, E.; Jenaro-Río, C.; Posada de la Paz, M.
In Neuroscience Applied 2023 2 Supplement 2
Academic Journal
Benito-Lozano J; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Universidad Nacional de Educación a Distancia (UNED), Madrid, Spain.; Arias-Merino G; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Gómez-Martínez M; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Arconada-López B; Spanish Federation of Rare Diseases (FEDER), Federación Española de Enfermedades Raras, Madrid, Spain.; Ruiz-García B; The State Reference Center for Assistance to People Living with Rare Diseases and their Families (Creer), Centro de Referencia Estatal de Atención a Personas con Enfermedades Raras y sus Familias, dependiente del IMSERSO, Burgos, Spain.; Posada de la Paz M; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Undiagnosed Diseases Network International (UDNI), Madrid, Spain.; Alonso-Ferreira V; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, España.
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
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