학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 289건 | 목록 1~10
Academic Journal
Beghini M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Pichler M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Tinnefeld FC; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Metz M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Möslinger D; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Konstantopoulou V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Spenger J; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Kautzky-Willer A; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Frommlet F; Center for Medical Data Science (Institute of Medical Statistics), Medical University of Vienna, Spitalgasse 23, 1090 Vienna, Austria.; Scherer T; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.; Hufgard-Leitner M; Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Währinger Gürtel 18-20, 1090 Vienna, Austria.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE
Academic Journal
Panis B; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Vos EN; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.; Barić I; Department of Pediatrics, University Hospital Center Zagreb, Croatia, and School of Medicine, University of Zagreb, Zagreb, Croatia.; Bosch AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Pediatrics, Division of Metabolic Diseases, Emma Children's Hospital, Amsterdam University Medical Center, Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, Netherlands.; Brouwers MCGJ; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Internal Medicine, Division of Endocrinology and Metabolic Disease, Maastricht University Medical Centre, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, Maastricht, Netherlands.; Burlina A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital Padova, Padova, Italy.; Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Faculty of Medicine, KU Leuven, Leuven, Belgium.; Coman DJ; Queensland Children's Hospital, Children's Health Queensland, Brisbane, QLD, Australia.; Couce ML; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Pediatrics, Diagnosis and Treatment Unit of Congenital Metabolic Diseases, University Clinical Hospital of Santiago de Compostela, IDIS-Health Research Institute of Santiago de Compostela, CIBERER, RICORS Instituto Salud Carlos III, Santiago de Compostela, Spain.; Das AM; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Pediatric Metabolic Medicine, Hannover Medical School, Hannover, Germany.; Demirbas D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States.; Empain A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics, Metabolic and Nutrition Unit, Division of Endocrinology, Diabetes and Metabolism, University Hospital for Children Queen Fabiola, Bruxelles, Belgium.; Gautschi M; Department of Paediatrics, Institute of Clinical Chemistry, Inselspital, Bern University Hospital, Swiss Reference Centre for Inborn Errors of Metabolism, Site Bern, Division of Pediatric Endocrinology, Diabetes and Metabolism, University of Bern, Bern, Switzerland.; Grafakou O; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; IEM Clinic, Arch Makarios III Hospital, Nicosia, Cyprus.; Grunewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, United Kingdom.; Kingma SDK; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Centre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Antwerp, Belgium.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland at Temple Street, University College Dublin, Dublin, Ireland.; Leão-Teles E; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Reference Centre of Inherited Metabolic Diseases, Centro Hospitalar Universitário São João, Porto, Portugal.; Möslinger D; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery (NHNN), London, United Kingdom.; Õunap K; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Genetics and Personalized Medicine Clinic, Faculty of Medicine, Tartu University Hospital, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Pané A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Endocrinology and Nutrition Department, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de la Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III (ISCIII), Madrid, Spain.; Paci S; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Inborn Errors of Metabolism, Clinical Department of Pediatrics, San Paolo Hospital - ASST Santi Paolo e Carlo, University of Milan, Milan, Italy.; Parini R; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Rare Diseases Unit, Department of Internal Medicine, San Gerardo Hospital IRCCS, Monza, Italy.; Rivera IA; iMed.ULisboa-Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, Lisboa, Portugal.; Scholl-Bürgi S; 29 Department of Child and Adolescent Health, Division of Pediatrics I-Inherited Metabolic Disorders, Medical University Innsbruck, Innsbruck, Austria.; Schwartz IVD; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.; Sdogou T; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece.; Shakerdi LA; Adult Metabolics/Genetics, National Centre for Inherited Metabolic Disorders, The Mater Misericordiae University Hospital, Dublin, Ireland.; Skouma A; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; Newborn Screening Department, Institute of Child Health, Athens, Greece.; Stepien KM; Salford Royal Organisation, Northern Care Alliance NHS Foundation Trust, Salford, United Kingdom.; Treacy EP; School of Medicine, Trinity College Dublin, National Rare Diseases Office, Mater Misericordiae University Hospital, Dublin, Ireland.; Waisbren S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States.; Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Manton Center for Orphan Disease Research, Boston, MA, United States.; Rubio-Gozalbo ME; Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.; European Reference Network for Hereditary Metabolic Disorders (MetabERN) Member, Padova, Italy.; United for Metabolic Diseases (UMD), Amsterdam, Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.; GROW School for Oncology and Reproduction, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, Netherlands.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. September 2012 35(5):817-821
Academic Journal
Derks B; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands.; GROW, Maastricht University, Maastricht, The Netherlands.; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands.; Demirbas D; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA.; Arantes RR; Special Service of Medical Genetics, Hospital das Clínicas da Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.; Banford S; South Eastern Health and Social Care Trust, Downpatrick, BT30 6RL, UK.; Burlina AB; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Division of Inherited Metabolic Diseases, University Hospital, Via Orus 2/B, 35128, Padua, Italy.; Cabrera A; Nutrition Department, Hospital de Niños V.J. Vilela, Sante Fe, Rosario, Argentina.; Chiesa A; Department of Endocrinology, Hospital de Niños Ricardo Gutièrrez, Buenos Aires, Argentina.; Couce ML; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Metabolic Unit, IDIS, Department of Neonatology, University Clinical Hospital of Santiago de Compostela. Calle Choupana, s/n, 15706, Santiago de Compostela, Spain.; Dionisi-Vici C; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Division of Metabolism, Bambino Gesu Children's Research Hospital IRCCS, Piazza S Onofrio 4, 00165, Roma, Italy.; Gautschi M; Division of Paediatric Endocrinology and Metabolism, Department of Paediatrics, University Hospital Bern, Inselspital, Freiburgstrasse 15, CH-3010, Bern, Switzerland.; Grünewald S; Metabolic Medicine Department, NIHR Biomedical Research Center (BRC), Institute for Child Health, Great Ormond Street Hospital, University College London, London, UK.; Morava E; Department of Clinical Genomics and Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.; Möslinger D; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Waehringer Guertel 18-20, 1090, Vienna, Austria.; Scholl-Bürgi S; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy.; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.; Skouma A; Institute of Child Health, Aghia Sophia Children's Hospital, Thivon & Papadiamantopoulou, 11527, Athens, Greece.; Stepien KM; Adult Inherited Metabolic Disorders Department, Salford Royal NHS Foundation Trust, Stott Lane, Salford, M6 8HD, Greater Manchester, UK.; Timson DJ; School of Pharmacy and Biomolecular Sciences, University of Brighton, Huxley Building, Lewes Road, Brighton, BN2 4GJ, UK.; Berry GT; Division of Genetics and Genomics, Harvard Medical School, Boston Children's Hospital, 3 Blackfan Circle, Center for Life Science Building, Suite 14070, Boston, MA, 02115, USA.; Rubio-Gozalbo ME; Department of Pediatrics and Clinical Genetics, Maastricht University Medical Centre+, P. Debyelaan 25, P.O. Box 5800, 6229 HX, Maastricht, The Netherlands. estela.rubio@mumc.nl.; GROW, Maastricht University, Maastricht, The Netherlands. estela.rubio@mumc.nl.; MetabERN: European Reference Network for Hereditary Metabolic Disorders, Udine, Italy. estela.rubio@mumc.nl.; UMD: United for Metabolic Diseases Member, Amsterdam, The Netherlands. estela.rubio@mumc.nl.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. October 2007 30(5):694-699
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