학술논문
'학술논문'
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Mena Report. July 18, 2014
Ade, P. A. R.; Aghanim, N.; Arnaud, M.; Ashdown, M.; Aumont, J.; Baccigalupi, C.; Banday, A. J.; Barreiro, R. B.; Bartolo, N.; Basak, S.; Battaner, E.; Benabed, K.; Benoit, A.; Benoit-Levy, A.; Bernard, J. -P.; Bersanelli, M.; Bielewicz, P.; Bock, J. J.; Bonaldi, A.; Bonavera, L.; Bond, J. R.; Borri, J.; Bouchet, F. R.; Bucher, M.; Burigana, C.; Butler, R. C.; Calabrese, E.; Cardoso, J. -F.; Casaponsa, B.; Catalano, A.; Challinor, A.; Chamballu, A.; Chiang, H. C.; Christensen, P. R.; Church, S.; Clements, D. L.; Colombi, S.; Colombo, L. P. L.; Combet, C.; Couchot, F.; Coulais, A.; Crill, B. P.; Curto, A.; Cuttaia, F.; Danese, L.; Davies, R. D.; Davis, R. J.; de Bernardis, P.; de Rosa, A.; de Zotti, G.; Delabrouille, J.; Desert, F. -X.; Diego, J. M.; Dole, H.; Donzelli, S.; Dore, O.; Douspis, M.; Ducout, A.; Dupac, X.; Efstathiou, G.; Elsner, F.; Ensslin, T. A.; Eriksen, H. K.; Fergusson, J.; Fernandez-Cobos, R.; Finelli, F.; Forni, O.; Frailis, M.; Fraisse, A. A.; Franceschi, E.; Frejsel, A.; Galeotta, S.; Galli, S.; Ganga, K.; Genova-Santos, R. T.; Girad, M.; Giraud-Heraud, Y.; Gjerlow, E.; Gonzalez-Nuevo, J.; Gorski, K. M.; Gratton, S.; Gregorio, A.; Gruppuso, A.; Gudmundsson, Jón E.; Hansen, F. K.; Hanson, D.; Harrison, D. L.; Henrot-Versille, S.; Hernandez-Monteagudo, C.; Herranz, D.; Hildebrandt, S. R.; Hivon, E.; Hobson, M.; Holmes, W. A.; Hornstrup, A.; Hovest, W.; Huffenberger, K. M.; Hurier, G.; Ilic, S.; Jaffe, A. H.; Jaffe, T. R.; Jones, W. C.; Juvela, M.; Keihanen, E.; Keskitalo, R.; Kisner, T. S.; Kneiss, R.; Knoche, J.; Kunz, M.; Kurki-Suonio, H.; Lagache, G.; Lahteenmaki, A.; Lamarre, J. -M.; Langer, M.; Lasenby, A.; Lattanzi, M.; Lawrence, C. R.; Leonardi, R.; Lesgourgues, J.; Levrier, F.; Liguori, M.; Lilje, P. B.; Linden-Vornle, M.; Lopez-Caniego, M.; Lubin, P. M.; Ma, Y. -Z.; Macias-Perez, J. F.; Maggio, G.; Maino, D.; Mandolesi, N.; Mangilli, A.; Marcos-Caballero, A.; Maris, M.; Martin, P. G.; Martinez-Gonzalez, E.; Masi, S.; Matarrese, S.; McGehee, P.; Meinhold, P. R.; Melchiorri, A.; Mendes, L.; Mennella, A.; Migliaccio, M.; Mitra, S.; Miville-Deschenes, M. -A.; Moneti, A.; Montier, L.; Morgante, G.; Mortlock, D.; Moss, A.; Munshi, D.; Murphy, J. A.; Naselsky, P.; Nati, F.; Natoli, P.; Netterfield, C. B.; Norgaard-Nielsen, H. U.; Noviello, F.; Novikov, D.; Novikov, I.; Oxborrow, C. A.; Paci, F.; Pagano, L.; Pajot, F.; Paoletti, D.; Pasian, F.; Patanchon, G.; Perdereau, O.; Perotto, L.; Perrotta, F.; Pettorino, V.; Piacentini, F.; Piat, M.; Pierpaoli, E.; Pietrobon, D.; Plaszczynski, S.; Pointecouteau, E.; Polenta, G.; Popa, L.; Pratt, G. W.; Prezeau, G.; Prunet, S.; Puget, J. -L.; Rachen, J. P.; Reach, W. T.; Rebolo, R.; Reinecke, M.; Remazeilles, M.; Renault, C.; Renzi, A.; Ristorcelli, I.; Rocha, G.; Rosset, C.; Rossetti, M.; Roudier, G.; Rubino-Martin, J. A.; Rusholme, B.; Sandri, M.; Santos, D.; Savelainen, M.; Savini, G.; Schaefer, B. M.; Scott, D.; Seiffert, M. D.; Shellard, E. P. S.; Spencer, L. D.; Stolyarov, V.; Stompor, R.; Sudiwala, R.; Sunyaev, R.; Sutton, D.; Suur-Uski, A. -S.; Sygnet, J. -F.; Tauber, J. A.; Terenzi, L.; Toffolatti, L.; Tomasi, M.; Tristram, M.; Tucci, M.; Tuovinen, J.; Valenziano, L.; Valiviita, J.; Van Tent, F.; Vielva, P.; Villa, F.; Wade, L. A.; Wandelt, B. D.; Wehus, I. K.; Yvon, D.; Zacchei, A.; Zonca, A.
Astronomy and Astrophysics. 594
Electronic Resource
Altassan, R.; Peanne, R.; Jaeken, J.; Barone, R.; Bidet, M.; Borgel, D.; Brasil, S.; Cassiman, D.; Cechova, A.; Coman, D.; Corral, J.; Correia, J.; Morena-Barrio, M.E. de la; Lonlay, P. de; Reis, V. Dos; Ferreira, C.R.; Fiumara, A.; Francisco, R.; Freeze, H.; Funke, S.; Gardeitchik, T.; Gert, M.; Girad, M.; Giros, M.; Grunewald, S.; Hernandez-Caselles, T.; Honzik, T.; Hutter, M.; Krasnewich, D.; Lam, C.; Lee, J.; Lefeber, D.J.; Marques-de-Silva, D.; Martinez, A.F.; Moravej, H.; Ounap, K.; Pascoal, C.; Pascreau, T.; Patterson, M.; Quelhas, D.; Raymond, K.; Sarkhail, P.; Schiff, M.; Seroczynska, M.; Serrano, M.; Seta, N.; Sykut-Cegielska, J.; Thiel, C; Tort, F.; Vals, M.A.; Videira, P.; Witters, P.; Zeevaert, R.; Morava, E.
Journal of Inherited Metabolic Disease; 5; 28; 0141-8955; 1; 42; ~Journal of Inherited Metabolic Disease~5~28~~~0141-8955~1~42~~
Academic Journal
Academic Journal
Academic Journal
Altassan R; Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.; Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Péanne R; Department of Human Genetics, KU Leuven, Leuven, Belgium.; LIA GLYCOLAB4CDG (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure', France/ Belgium.; Jaeken J; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Barone R; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Bidet M; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France.; Borgel D; INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France.; Brasil S; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Cassiman D; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Cechova A; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Coman D; Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia.; Corral J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.; Correia J; Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal.; de la Morena-Barrio ME; Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.; de Lonlay P; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France.; Dos Reis V; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.; Fiumara A; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.; Francisco R; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.; Freeze H; Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California.; Funke S; Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Gert M; LIA GLYCOLAB4CDG (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure', France/ Belgium.; Center for Human Genetics, KU Leuven, Leuven, Belgium.; Girad M; AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.; Hepatologie prdiatrique department, Paris Descartes University, Paris, France.; Giros M; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.; Grünewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK.; Hernández-Caselles T; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.; Honzik T; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Hutter M; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.; Krasnewich D; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia.; Lefeber D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Marques-de-Silva D; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.; Martinez AF; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain.; Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.; Õunap K; Department of Pediatrics, University of Tartu, Tartu, Estonia.; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Pascoal C; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Pascreau T; AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France.; Patterson M; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic Children's Center, Rochester, New York.; Division of Child and Adolescent Neurology, Department of Pediatrics, Mayo Clinic Children's Center, Rochester, New York.; Division of Child and Adolescent Neurology, Department of Medical Genetics, Mayo Clinic Children's Center, Rochester, New York.; Quelhas D; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.; Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal.; Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota.; Sarkhail P; Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran.; Schiff M; Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France.; Seroczyńska M; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain.; Serrano M; Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Seta N; AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland.; Thiel C; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany.; Tort F; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.; Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Videira P; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal.; Witters P; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.; Zeevaert R; Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium.; Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, New York.; Department of Pediatrics, Tulane University, New Orleans, Louisiana.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
Academic Journal
Academic Journal
Phillips, Catherine H.; Guo, Yang; Strachowski, Loretta M.; Jha, Priyanka; Reinhold, Caroline; Andreotti, Rochelle F.
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