학술논문


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'학술논문' 에서 검색결과 162건 | 목록 1~20
Academic Journal
Tijdschrift voor Geneeskunde. :1042-1046
Academic Journal
52 (2009): 303.
info:cnr-pdr/source/autori:R.Zeevaert, F.Foulquier, D.Cheillan, I.Cloix, N.Guffon, L.Sturiale, D.Garozzo, G.Matthijs, J.Jaeken/titolo:A new mutation in COG7 extends the spectrum of COG subunit deficiencies/doi:/rivista:/anno:2009/pagina_da:303/pagina_a:/intervallo_pagine:303/volume:52
European Journal of Medical Genetics
Academic Journal
Zeevaert R; KCE, Belgian Health Care Knowledge Centre, Kruidtuinlaan, 55, 1000 Brussels, Belgium.; Thiry N; KCE, Belgian Health Care Knowledge Centre, Kruidtuinlaan, 55, 1000 Brussels, Belgium.; Maertens de Noordhout C; KCE, Belgian Health Care Knowledge Centre, Kruidtuinlaan, 55, 1000 Brussels, Belgium.; Roberfroid D; KCE, Belgian Health Care Knowledge Centre, Kruidtuinlaan, 55, 1000 Brussels, Belgium.
Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101748769 Publication Model: eCollection Cited Medium: Internet ISSN: 2590-1362 (Electronic) Linking ISSN: 25901362 NLM ISO Abbreviation: Vaccine X Subsets: PubMed not MEDLINE
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
In: Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine. (Acta Clinica Belgica: International Journal of Clinical and Laboratory Medicine, 1 November 2016, 71(6):435-437)
Academic Journal
In: Tijdschrift voor Geneeskunde. (Tijdschrift voor Geneeskunde, 15 August 2015, 71(16):1042-1046)
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제한된 항목
[검색어] Zeevaert, R.
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