학술논문


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  • 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
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위반 시 제재
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'학술논문' 에서 검색결과 10건 | 목록 1~20
Academic Journal
Nat Commun
NATURE COMMUNICATIONS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Nature Communications
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Fundació Sant Joan de Déu
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Nature Communications, 12, 1
Academic Journal
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
CLINICAL CHEMISTRY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Academic Journal
Fabra MA; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Paredes-Fuentes AJ; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Torralba Carnerero M; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Moreno Férnandez de Ayala DJ; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Arroyo Luque A; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Sánchez Cuesta A; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Staiano C; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Sanchez-Pintos P; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital de Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.; GCV14/ER/5 CIBERER, Instituto de Salud Carlos III, Santiago de Compostela, Spain.; Luz Couce M; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital de Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.; GCV14/ER/5 CIBERER, Instituto de Salud Carlos III, Santiago de Compostela, Spain.; Tomás M; Hospital Universitari i Politècnic La Fe, Servicio de Neuropediatría, Valencia, Spain.; Marco-Hernández AV; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Orellana C; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Martínez F; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Roselló M; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Caro A; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Oltra Soler JS; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Monfort S; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Sánchez A; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain.; Rausell D; Hospital Universitari i Politècnic La Fe, Servicio de Análisis Clínicos, Valencia, Spain.; Vitoria I; Hospital Universitari i Politècnic La Fe, Unidad de Metabolopatías, Valencia, Spain.; Del Toro M; Pediatric Neurology Unit, Hospital Universitari Vall d'Hebron, CIBERER, MetabERN, Barcelona, Spain.; Instituto de Salud Carlos III, Barcelona, Spain.; Garcia-Cazorla A; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Julia-Palacios NA; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Jou C; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Yubero D; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; López LC; Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica, Instituto de Biotecnología, Universidad de Granada, Granada, Spain.; Hernández Camacho JD; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; López Lluch G; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Ballesteros Simarro M; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Rodríguez Aguilera JC; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Calvo GB; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Cascajo Almenara MV; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.; Artuch R; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain.; Santos-Ocaña C; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Juliá-Palacios NA; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Olivella M; Bioinformatics and Medical Statistics Group, Faculty of Science and Technology, Vic University-University of Central Catalonia, Barcelona, Spain.; Guder P; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zafeiriou DI; First Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece.; Horvath G; Division of Biochemical Genetics, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.; Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Pearson TS; Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Kuster A; Department of Neurometabolism and Metabolic Disorders, University Hospital of Nantes, Nantes, France.; Cortès-Saladelafont E; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Germans Trias i Pujol Hospital, Badalona and Faculty of Medicine, Autonomous University of Barcelona, Barcelona, Spain.; Ibáñez S; Department of Pediatric Neurology, Virgen de la Arrixaca Hospital, Murcia, Spain.; García-Jiménez MC; Metabolic Diseases Unit, Miguel Servet University Hospital, Zaragoza, Spain.; Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Garbade SF; Dietmar-Hopp Metabolic Center, University Children's Hospital Heidelberg, Heidelberg, Germany.; Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.; García-Cazorla Á; Inborn Errors of Metabolism Unit, Department of Neurology, Recerca Sant Joan de Déu Institute, CIBERER-ISCIII and MetabERN, Barcelona, Spain.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE
Academic Journal
Justel M; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Paediatrics, Complejo asistencial de Salamanca, Salamanca, Spain.; Jou C; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.; Sariego-Jamardo A; Paediatric Neurology Unit, Hospital Universitario Marques de Valdecilla, Santander, Spain.; Juliá-Palacios NA; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Poch ML; Department of Paediatrics, Hospital San Pedro, Logrono, Spain.; Hedrera-Fernandez A; Paediatric Neurology Unit, Hospital Universitario Central de Asturias, Oviedo, Spain.; Gomez-Martin H; Department of Paediatrics, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Dominguez-Carral J; Unit of Epilepsy, Sleep and Neurophysiology, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Muxart J; Department of Radiology, Hospital Sant Joan de Déu, Barcelona, Spain.; Hernández-Laín A; Neuropathology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.; Vila-Bedmar S; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Zulaica M; Biodonostia, Neurosciences Area, Neuromuscular Diseases Laboratory, Hospital Universitario de Donostia, San Sebastian, Spain.; Cancho-Candela R; Paediatric Neurology Unit, Hospital Universitario Rio Hortega de Valladolid, Valladolid, Spain.; Castro MDC; Department of Paediatrics, Hospital Clinico Universitario de Valladolid, Valladolid, Spain.; de la Osa-Langreo A; Department of Paediatrics, Hospital Universitario Doctor Peset, Valencia, Spain.; Peña-Valenceja A; Department of Paediatrics, Hospital Rio Carrion, Palencia, Spain.; Marcos-Vadillo E; Department of Clinical Biochemistry, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.; Prieto-Matos P; Department of Paediatrics, Complejo asistencial de Salamanca, Salamanca, Spain.; Pascual-Pascual SI; La Paz University Hospital, Madrid, Spain.; López de Munain A; Biodonostia, Neurosciences Area, Neuromuscular Diseases Laboratory, Hospital Universitario de Donostia, San Sebastian, Spain.; Camacho A; Paediatric Neurology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.; Estevez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain.; Musokhranova U; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Olivella M; Biosciences Department, Faculty of Sciences, Technology and Engineering, Universitat de Vic-Universitat Central de Catalunya, Vic, Spain.; Oyarzábal A; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Jimenez-Mallebrera C; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetics, Microbiology and Statistics, University of Barcelona, Barcelona, Spain.; Domínguez-González C; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; García-Cazorla À; Neurometabolic Unit and Synaptic Metabolism Lab, Departments of Neurology, IPR (Institut Pediàtric de Recerca), CIBERER and MetabERN, Hospital Sant Joan de Déu, Barcelona, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain daniel.natera@sjd.es.; Applied Research in Neuromuscular Diseases, Sant Joan de Deu Research Institute, Barcelona, 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
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[Author] Julia-Palacios NA
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