학술논문
'학술논문'
에서 검색결과 150건 | 목록
1~20
Academic Journal
P. Arranz Horno; L. Abraira del Fresno; M. Quintana Luque; D. Campos Fernández; S. López Maza; E. Fonseca Hernández; E. Santamarina Pérez; J. Salas Puig; M. Raspall Chaure; J. Sala Coromina; A. Macaya Ruiz; A. Lasa Aranzasti; E. Tizzano; M. Toledo Argany
Neurology Perspectives, Vol 4, Iss , Pp 82- (2024)
Electronic Resource
Saettini, F; Guerra, F; Mauri, M; Salter, C; Adam, M; Adams, D; Baple, E; Barredo, E; Bhatia, S; Borkhardt, A; Brusco, A; Bugarin, C; Chinello, C; Crosby, A; D'Souza, P; Denti, V; Fazio, G; Giuliani, S; Kuehn, H; Amel, H; Elmi, A; Lo, B; Malighetti, F; Mandrile, G; Martín-Nalda, A; Mefford, H; Moratto, D; Emam Mousavi, F; Nelson, Z; Gutiérrez-Solana, L; Macnamara, E; Michaud, V; O'Leary, M; Pagani, L; Pavinato, L; Santamaria, P; Planas-Serra, L; Quadri, M; Raspall-Chaure, M; Rebellato, S; Rosenzweig, S; Roubertie, A; Holzinger, D; Deal, C; Vockley, C; Savino, A; L. Stoddard, J; Uhlig, H; Pujol, A; Magni, F; Paglia, G; Cazzaniga, G; Piazza, R; Barberis, M; Biondi, A; Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt; Brusco, Alfredo; Bugarin, Cristina; Chinello, Clizia; Crosby, Andrew H.; D'Souza, Precilla; Denti, Vanna; Fazio, Grazia; Giuliani, Silvia; Kuehn, Hye Sun; Amel, Hassan; Elmi, Asha; Lo, Bernice; Malighetti, Federica; Mandrile, Giorgia; Martín-Nalda, Andrea; Mefford, Heather C.; Moratto, Daniele; Emam Mousavi, Fatemeh; Nelson, Zoe; Gutiérrez-Solana, Luis González; Macnamara, Ellen; Michaud, Vincent; O'Leary, Melanie; Pagani, Lisa; Pavinato, Lisa; Santamaria, Patricia VVelez; Planas-Serra, Laura; Quadri, Manuel; Raspall-Chaure, Miquel; Rebellato, Stefano; Rosenzweig, Sergio D.; Roubertie, Agathe; Holzinger, Dirk; Deal, Christin; Vockley, Catherine Walsh; Savino, Angela Maria; L. Stoddard, Jennifer; Uhlig, Holm H.; Pujol, Aurora; Magni, Fulvio; Paglia, Giuseppe; Cazzaniga, Gianni; Piazza, Rocco; Barberis, Matteo; Biondi, Andrea
Academic Journal
Bullich, Gemma; Matalonga, Leslie; Pujadas, Montserrat; Papakonstantinou, Anastasios; Piscia, Davide; Tonda, Raúl; Artuch, Rafael; Gallano, Pia; Garrabou, Glòria; González, Juan R.; Grinberg, Daniel; Guitart, Míriam; Laurie, Steven; Lázaro, Conxi; Luengo, Cristina; Martí, Ramon; Milà, Montserrat; Ovelleiro, David; Parra, Genís; Pujol, Aurora; Tizzano, Eduardo; Macaya, Alfons; Palau, Francesc; Ribes, Antònia; Pérez-Jurado, Luis A.; Beltran, Sergi; Schlüter, Agatha; Rodriguez-Palmero, Agustí; Cáceres, Alejandro; Nascimento, Andrés; García-Cazorla, Àngels; Cueto-González, Anna; Marcé-Grau, Anna; Nel.lo, Anna Ruiz; Martínez-Monseny, Antonio; Sànchez, Aurora; García, Belén; Pérez-Dueñas, Belén; Gel, Bernat; Fusté, Berta; Hernández-Ferrer, Carles; Casasnovas, Carlos; Ortez, Carlos; Arjona, César; Hernando-Davalillo, Cristina; de Benito, Daniel Natera; Amador, Daniel Picó; Gómez-Andrés, David; Yubero, Dèlia; Pelegrí-Sisó, Dolors; Verdura, Edgard; García-Arumí, Elena; Castellanos, Elisabeth; Gabau, Elisabeth; Tobías, Ester; López-Grondona, Fermina; Cardellach, Francesc; Garcia-Garcia, Francesc Josep; Munell, Francina; Tort, Frederic; Aznar, Gemma; Olivé-Cirera, Gemma; Tell, Gemma; Muñoz-Pujol, Gerard; Paramonov, Ida; Blanco, Ignacio; Madrigal, Irene; Valenzuela, Irene; Gut, Ivo; Cusco, Ivon; Trotta, Jean-Rémi; Cruz, Jordi; Díaz-Manera, Jordi; Milisenda, José César; a<%2Fce%3Asup>+Grau%2C+Josep">MD'Souza P ; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA.; Denti V; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Fazio G; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Giuliani S; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Kuehn HS; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA.; Amel H; Pediatric Allergy and Immunology Department, Sidra Medicine, Doha, Qatar.; Elmi A; Research Branch, Sidra Medicine, Doha, Qatar.; Lo B; Research Branch, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Malighetti F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Mandrile G; Department of Medical Sciences, University of Turin, Turin, Italy.; Martín-Nalda A; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Mefford HC; Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Moratto D; Flow Cytometry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy.; Emam Mousavi F; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom.; Nelson Z; Vascular Anomalies Program, Seattle Children's Hospital, Seattle, WA, USA.; Gutiérrez-Solana LG; Hospital Infantil Niño Jesús, Madrid, Madrid, Spain.; Macnamara E; NIH Undiagnosed Diseases Program, NIH, Bethesda, MD, USA.; Michaud V; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, Aquitaine, France. INSERM U1211, Rare Diseases Laboratory: Genetics and Metabolism, University of Bordeaux, Aquitaine, Talence, France.; O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pagani L; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Pavinato L; Department of Neurosciences Rita Levi-Montalcini, University of Turin, Turin, Italy.; Department of Medical Sciences, University of Turin, Turin, Italy.; Santamaria PV; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Quadri M; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Raspall-Chaure M; Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Rebellato S; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Rosenzweig SD; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA.; Roubertie A; Département de Neuropédiatrie, CIC, CHU de Montpellier, INM, Univ Montpellier, INSERM U 1298, Montpellier, France.; Holzinger D; Department of Pediatric Haematology-Oncology, Pediatrics III, University of Duisburg-Essen, Essen, Germany.; Department of Applied Health Sciences, University of Applied Sciences Bochum, Bochum, Germany.; Deal C; Division of Pediatric Allergy and Immunology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA.; Vockley CW; Division of Genetic and Genomic Medicine, UPMC Children's Hospital of Pittsburgh, Pittsburgh, USA.; Savino AM; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; L Stoddard J; Immunology Service, DLM, NIH Clinical Center, Bethesda, MD, USA.; Uhlig HH; Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, John Radcliffe Hospital, University of Oxford, Oxfordshire, UK.; Department of Paediatrics, University of Oxford, Oxfordshire, UK.; Oxford NIHR Biomedical Research Centre, Oxford, UK.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research in Network on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.; Magni F; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Paglia G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Cazzaniga G; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Piazza R; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.; Barberis M; Molecular Systems Biology, School of Biosciences, Faculty of Health and Medical Sciences, University of Surrey, Guildford, Surrey, United Kingdom.; Centre for Mathematical and Computational Biology, CMCB, University of Surrey, Guildford, Surrey, United Kingdom.; Biondi A; Centro Tettamanti, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Pediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.; Dipartimento di Medicina e Chirurgia, Università degli Studi Milano-Bicocca, Monza, Italy.
Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
News
Health & Medicine Week. February 25, 2008, 2575
Academic Journal
Turón-Viñas, E.; Boronat, S.; Brió, S.; Gich, I.; González Álvarez, V.; García-Puig, M.; Camós Carreras, M.; Rodriguez-Palmero, A.; Pérez De La Ossa, N.; Felipe-Rucián, A.; Aznar-Laín, G.; Jiménez-Fàbrega, X.; Álvarez-Molinero, M.; Barceló, I.; Casellas-Vidal, D.; Coca-Fernández, E.; Costa-Comellas, L.; Delgadillo-Chilabert, V.; Díaz-Gómez, A.; Díaz-Simal, L.; Dougherty-De Miguel, L.; Escofet, C.; Esteban, E.; Gómez-Andrés, D.; González-Rioja, X.; Molina-Anguita, C.; Monlleó-Neila, L.; Paredes-Carmona, F.; Pujol, M.; Raspall-Chaure, M.; Renter-Valdovinos, L.; Sala-Colomina, J.; Sensarrich, M.; Solà, S.; Soto, A.; Torrents, C.; Turon-Viñas, A.; Turon, M.; Valle-T-Figueras, J.M.
In: Stroke . (Stroke, 1 September 2024, 55(9):2240-2246)
Academic Journal
Raspall-Chaure, M.; Martínez-Bermejo, A.; Pantoja-Martínez, J.; Paredes-Carmona, F.; Sánchez-Carpintero, R.; Wait, S.
In Anales de Pediatria August 2014 81(2):99-106
Academic Journal
Macaya, A.; Drechsel, O.; Álvarez-Molinero, M.; Marcé-Grau, A.; Ferrer-Aparicio, S.; Gómez-Andrés, D.; Flotats-Bastardas, M.; Pons, M.R.; Raspall-Chaure, M.; Bezdan, D.; Bossio, M.; Munell, F.; Ossowski, S.
European Journal of Paediatric Neurology. 21:e219-e220
Academic Journal
Epilepsia. Dec, 2006, Vol. 47 Issue s3, p5, 3 p.
Academic Journal
Mercimek-Mahmutoglu, Saadet; Ndika, Joseph; Kanhai, Warsha; de Villemeur, Thierry Billette; Cheillan, David; Christensen, Ernst; Dorison, Nathalie; Hannig, Vickie; Hendriks, Yvonne; Hofstede, Floris C.; Lion-Francois, Laurence; Lund, Allan M.; Mundy, Helen; Pitelet, Gaele; Raspall-Chaure, Miquel; Scott-Schwoerer, Jessica A.; Szakszon, Katalin; Valayannopoulos, Vassili; Williams, Monique; Salomons, Gajja S.
Human Mutation. Apr 01, 2014 35(4):462-469
Academic Journal
Sánchez-Carpintero, R.; Camino, R.; Smeyers, P.; Raspall-Chaure, M.; Martínez-Bermejo, A.; Ruiz-Falcó, M.L.; Verdú, A.; Sanmarti, F.X.; Blanco, O.; Santos Borbujo, J.; Picó, G.; Cebollero, M.A.
In Anales de Pediatria December 2014 81(6):400-400
Academic Journal
Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Senger B; Université de Strasbourg 1, Strasbourg, France.; Raspall-Chaure M; Pediatric Neurology Research Group, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, 08035, Barcelona, Catalonia, Spain.; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035, Barcelona, Catalonia, Spain.; Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Launay N; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Casasnovas C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Hospital Universitari de Bellvitge, Barcelona, Spain.; Rodriguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain.; Pediatrics, Hospital Germans Trias i Pujol, Barcelona, Spain.; Macaya A; Pediatric Neurology Research Group, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, 08035, Barcelona, Catalonia, Spain.; Department of Paediatric Neurology, Vall d'Hebron University Hospital, 08035, Barcelona, Catalonia, Spain.; Institut de Neurociències, Universitat Autònoma de Barcelona, 08193, Barcelona, Catalonia, Spain.; Becker HD; Université de Strasbourg 1, Strasbourg, France.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain apujol@idibell.cat.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), 08010, Barcelona, Catalonia, Spain.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Vigevano, F.; Kirkham, F.; Wilken, B.; Raspall-Chaure, M.; Grebla, R.; Roskell, N.; Kiechle, T.; Lagae, L.
European Journal of Paediatric Neurology. 19:S107-S107
Academic Journal
Wilken, B.; Kirkham, F.; Lagae, L.; Raspall-Chaure, M.; Grebla, R.; Roskell, N.; Kiechle, T.; Vigevano, F.
European Journal of Paediatric Neurology. 19:S59-S59
Academic Journal
Kirkham, F.; Vigevano, F.; Wilken, B.; Raspall-Chaure, M.; Grebla, R.; Roskell, N.; Kiechle, T.; Lagae, L.
European Journal of Paediatric Neurology. 19:S58-S58
Academic Journal
European Journal of Paediatric Neurology. 19:S31-S31
Academic Journal
Macaya, A.; Marcé-Grau, A.; Cuenca-León, E.; Felipe-Rucián, A.; López-Pisón, F.J.; Raspall-Chaure, M.
European Journal of Paediatric Neurology. 19:S29-S29
Academic Journal
Epilepsia. Sep 01, 2007 48(9):1652-1663
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