학술논문
'학술논문'
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1~10
Academic Journal
Hishida, Tomoaki; Vazquez-Ferrer, Eric; Hishida-Nozaki, Yuriko; Sancho-Martinez, Ignacio; Takahashi, Yuta; Hatanaka, Fumiyuki; Wu, Jun; Ocampo, Alejandro; Reddy, Pradeep; Wu, Min-Zu; Gerken, Laurie; Shaw, Reuben J; Rodriguez Esteban, Concepcion; Benner, Christopher; Nakagawa, Hiroshi; Guillen Garcia, Pedro; Nuñez Delicado, Estrella; Castells, Antoni; Campistol, Josep M; Liu, Guang-Hui; Izpisua Belmonte, Juan Carlos
Protein & Cell. 10(7)
Academic Journal
Campistol J; Servicio Neuropediatría, Hospital Universitari Sant Joan de Déu, Barcelona, España. E-mail: jaime.campistol@sjd.es.
Publisher: Fundación Revista Medicina (Buenos Aires) Country of Publication: Argentina NLM ID: 0204271 Publication Model: Print Cited Medium: Internet ISSN: 1669-9106 (Electronic) Linking ISSN: 00257680 NLM ISO Abbreviation: Medicina (B Aires) Subsets: MEDLINE
Academic Journal
A. MacDonald; A. M. J. van Wegberg; K. Ahring; S. Beblo; A. Bélanger-Quintana; A. Burlina; J. Campistol; T. Coşkun; F. Feillet; M. Giżewska; S. C. Huijbregts; V. Leuzzi; F. Maillot; A. C. Muntau; J. C. Rocha; C. Romani; F. Trefz; F. J. van Spronsen
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)
Academic Journal
David Cucchiari; Valeria Tubita; Jordi Rovira; Maria J. Ramirez-Bajo; Elisenda Banon-Maneus; Marta Lazo-Rodriguez; Natalia Hierro-Garcia; Francesc E. Borràs; Pedro Ventura-Aguiar; Gastón J. Piñeiro; Jaume Martorell; Lluís Peri; Mireia Musquera; Alexandre Hertig; Federico Oppenheimer; Josep M. Campistol; Fritz Diekmann; Ignacio Revuelta
Frontiers in Medicine, Vol 8 (2021)
Academic Journal
Morales-Romero B; Section of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, ISCIII, Barcelona, Spain. Electronic address: bmorales@clinic.cat.; Muñoz-Pujol G; Section of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, ISCIII, Barcelona, Spain. Electronic address: gemunoz@recerca.clinic.cat.; Artuch R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, CIBERER, Esplugues de Llobregat, Barcelona, Spain. Electronic address: rafael.artuch@sjd.es.; García-Cazorla A; Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Hospital Sant Joan de Déu, CIBERER and MetabERN, Esplugues de Llobregat, Barcelona, Spain. Electronic address: angeles.garcia@sjd.es.; O'Callaghan M; Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Hospital Sant Joan de Déu, CIBERER and MetabERN, Esplugues de Llobregat, Barcelona, Spain. Electronic address: mariamar.ocallaghan@sjd.es.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Pediatrics, Institute of Mother and Child, Warsaw, Poland.; Campistol J; Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Hospital Sant Joan de Déu, CIBERER and MetabERN, Esplugues de Llobregat, Barcelona, Spain. Electronic address: campistol@sjdhospitalbarcelona.org.; Moreno-Lozano PJ; Inherited Metabolic Diseases and Muscle Disorders' Research Group, Department of Internal Medicine, Hospital Clinic de Barcelona, IDIBAPS, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain. Electronic address: pjmoreno@clinic.cat.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Machteld.Oud@radboudumc.nl.; Wevers RA; Department of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, the Netherlands; United for Metabolic Diseases, The Netherlands. Electronic address: Ron.Wevers@radboudumc.nl.; Lefeber DJ; Department of Human Genetics, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, the Netherlands; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: Dirk.Lefeber@radboudumc.nl.; Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), Parc Científic de Barcelona, Barcelona, Spain. Electronic address: anna.esteve@cnag.eu.; Yepez VA; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany; TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany. Electronic address: yepez@in.tum.de.; Gagneur J; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany; TUM School of Computation, Information and Technology, Technical University of Munich, 85748 Garching, Germany. Electronic address: gagneur@in.tum.de.; Wortmann SB; University Children's Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria; Amalia Children's Hospital, Department of Pediatrics, Radboudumc, Nijmegen, the Netherlands. Electronic address: s.wortmann@salk.at.; Prokisch H; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: prokisch@helmholtz-muenchen.de.; Ribes A; Section of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, ISCIII, Barcelona, Spain. Electronic address: aribes@clinic.cat.; García-Villoria J; Section of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, ISCIII, Barcelona, Spain. Electronic address: jugarcia@clinic.cat.; Tort F; Section of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, ISCIII, Barcelona, Spain. Electronic address: ftort@recerca.clinic.cat.
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Gaston J. Piñeiro; Enrique Montagud-Marrahi; José Ríos; Pedro Ventura-Aguiar; David Cucchiari; Ignacio Revuelta; Miquel Lozano; Joan Cid; Frederic Cofan; Nuria Esforzado; Eduard Palou; Federico Oppenheimer; Josep M. Campistol; Beatriu Bayés-Genís; Jordi Rovira; Fritz Diekmann
Frontiers in Medicine, Vol 8 (2021)
Academic Journal
Pardo, J.; Capdevila-Lacasa, C.; Segura, B.; Junqué, C.; Pané, A.; Montserrat, C.; de Talló Forga-Visa, M.; Moreno, P.J.; Garrabou, G.; Grau-Junyent, J.M.; Argudo-Ramírez, A.; Barrau-Martínez, B.; Cantó, J.; Campistol, J.; Cardellach, F.; Casals-Pascual, C.; Chiva-Blanch, G.; García-Arenas, D.; García-García, F.J.; García-Villoria, J.; González de Aledo-Castillo, J.M.; González-Rodríguez, A.; Guitart-Mampel, M.; Isern, P.; Jiménez, A.; Laudo, B.; Llorach, R.; Andújar-Sánchez, F.; López-Galera, R.; Meavilla, S.M.; Milisenda, J.C.; Morales, B.; Moreno-Lozano, P.J.; Moreno, J.; Nos, M.; Ormazabal, A.; Ortega Ferrer, M.; Ortega, E.; Padrosa, J.; Paredes, A.J.; Rubio, E.; Tobías, E.; Torremade, J.; Urpi-Sarda, M.; Valls, L.; Ventura, R.; Vergara-Gómez, A.; Viaplana, J.; Viñals, C.
In: Journal of Neurodevelopmental Disorders . (Journal of Neurodevelopmental Disorders, December 2024, 16(1))
Report
Pijuan J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.; Vilanova-Adell A; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Casas-Alba D; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu and University of Barcelona, Barcelona, Spain.; European Reference Network, ITHACA, Barcelona, Spain.; Campistol J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.; Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.; Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu and University of Barcelona, Barcelona, Spain.; European Reference Network, ITHACA, Barcelona, Spain.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Tomoaki Hishida; Eric Vazquez-Ferrer; Yuriko Hishida-Nozaki; Ignacio Sancho-Martinez; Yuta Takahashi; Fumiyuki Hatanaka; Jun Wu; Alejandro Ocampo; Pradeep Reddy; Min-Zu Wu; Laurie Gerken; Reuben J. Shaw; Concepcion Rodriguez Esteban; Christopher Benner; Hiroshi Nakagawa; Pedro Guillen Garcia; Estrella Nuñez Delicado; Antoni Castells; Josep M. Campistol; Guang-Hui Liu; Juan Carlos Izpisua Belmonte
Protein & Cell, Vol 10, Iss 7, Pp 485-495 (2019)
Academic Journal
MacDonald, A.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Bélanger-Quintana, A.; Burlina, A.; Campistol, J.; Coşkun, T.; Feillet, F.; Giżewska, M.; Huijbregts, S. C.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F.; van Spronsen, F. J.
Orphanet Journal of Rare Diseases. 15(1)
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[검색어] Campistol, J
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