학술논문
'학술논문'
에서 검색결과 142건 | 목록
1~10
Academic Journal
Linhart, A.; Dostálová, G.; Nicholls, K.; West, M.L.; Tøndel, C.; Jovanovic, A.; Giraldo, P.; Vujkovac, B.; Geberhiwot, T.; Brill-Almon, E.; Alon, S.; Chertkoff, R.; Rocco, R.; Hughes, D.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2023, 18(1))
Academic Journal
Wallace EL; Department of Medicine, Division of Nephrology, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Goker-Alpan O; Lysosomal and Rare Disorders Research and Treatment Center, Inc, Fairfax, Virginia, USA.; Wilcox WR; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Holida M; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Bernat J; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Longo N; Department of Pediatrics, Division of Medical Genetics, University of Utah Health, Salt Lake City, Utah, USA.; Linhart A; Department of Internal Medicine, School of Medicine, Charles University and General University Hospital, Prague, Czech Republic.; Hughes DA; Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust and University College London, London, UK.; Hopkin RJ; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Tøndel C; Department of Clinical Science, University of Bergen, Bergen, Norway.; Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.; Langeveld M; Academisch Medisch Centrum Universiteit van Amsterdam, Amsterdam, The Netherlands.; Giraldo P; Unidad de Investigación Traslacional. Hospital Universitario Miguel Servet, Instituto de Investigación Sanitaria Aragón (IIS Aragón), Zaragoza, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER-ISCIII), Zaragoza, Spain.; Pisani A; Department of Public Health, Universita degli Studi di Napoli Federico II, Napoli, Italy.; Germain DP; Division of Medical Genetics, University of Versailles, Garches, France.; Mehta A; Baylor University Medical Center at Dallas, Dallas, Texas, USA.; Deegan PB; Lysosmal Disorders Unit, Department of Medicine, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University Clinical Center, Budapest, Hungary.; Ortiz D; Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.; Jovanovic A; Mark Holland Metabolic Unit, Northern Care Alliance NHS Foundation Trust, Greater Manchester, UK.; Muriello M; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Barshop BA; Department of Pediatrics, University of California San Diego, La Jolla, California, USA.; Kimonis V; Department of Pediatrics, University of California Irvine, Irvine, California, USA.; Vujkovac B; Department of Internal Medicine, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.; Nowak A; Department of Endocrinology and Clinical Nutrition, University Hospital Zurich and University of Zurich, Zurich, Switzerland.; Geberhiwot T; Department of Diabetes, Endocrinology and Metabolism, Queen Elizabeth Hospital Birmingham, Birmingham, UK.; Kantola I; Division of Medicine, Turku University Hospital, Turku, Finland.; Knoll J; Phoenix Children's Hospital, Phoenix, Arizona, USA.; Waldek S; University of Sunderland, Sunderland, UK.; Nedd K; Infusion Associates, Grand Rapids, Michigan, USA.; Karaa A; Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; Brill-Almon E; Protalix Biotherapeutics, Carmiel, Israel.; Alon S; Product Development, Protalix Biotherapeutics, Carmiel, Israel.; Chertkoff R; Protalix Biotherapeutics, Carmiel, Israel.; Rocco R; Chiesi Farmaceutici SpA, Parma, Italy.; Sakov A; DataSights, Haifa, Israel.; Warnock DG; Department of Medicine, Division of Nephrology, The University of Alabama at Birmingham, Birmingham, Alabama, USA dwarnock@uab.edu.
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
Academic Journal
Goláň L; Goker-Alpan O; Holida M; Kantola I; Klopotowski M; Kuusisto J; Linhart A; Musial J; Nicholls K; Gonzalez-Rodriguez D; Sharma R; Vujkovac B; Chang P; Wijatyk A
Drug Design, Development and Therapy, Vol 2015, Iss default, Pp 3435-3444 (2015)
Academic Journal
Kidney International Reports, Vol 6, Iss 4, Pp S293- (2021)
Academic Journal
Derralynn A Hughes; Raphael Schiffmann; Ales Linhart; Patricio Aguiar; Patrick B Deegan; Fatih Ezgu; Andrea Frustaci; Olivier Lidove; Jean-Claude Lubanda; Kathleen Nicholls; Dau-Ming Niu; Uma Ramaswami; Ricardo Reisin; Paula Rozenfeld; Einar Svarstad; Roser Torra; Bojan Vujkovac; Michael L West; Jack Johnson; Mark J Rolfe
BMJ Open, Vol 10, Iss 10 (2020)
Academic Journal
Levstek T; Laboratory for Translational Medical Biochemistry, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Vujkovac B; Centre for Fabry Disease, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.; Cokan Vujkovac A; Centre for Fabry Disease, General Hospital Slovenj Gradec, Slovenj Gradec, Slovenia.; Trebušak Podkrajšek K; Laboratory for Translational Medical Biochemistry, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Clinical Institute for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE
Academic Journal
Derralynn A. Hughes; Patrício Aguiar; Olivier Lidove; Kathleen Nicholls; Albina Nowak; Mark Thomas; Roser Torra; Bojan Vujkovac; Michael L. West; Sandro Feriozzi
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Academic Journal
Hughes, D.A.; Aguiar, P.; Lidove, O.; Nicholls, K.; Nowak, A.; Thomas, M.; Torra, R.; Vujkovac, B.; West, M.L.; Feriozzi, S.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2022, 17(1))
Academic Journal
Germain DP; French Referral Center for Fabry disease and MetabERN European Reference Network for Inherited Metabolic Diseases, Division of Medical Genetics, University of Versailles, Paris-Saclay University, 2, allée de la source de la Bièvre, 78180 Montigny, France.; Altarescu G; Shaare Zedek Institute of Medical Genetics, Shaare Zedek Medical Center, Shmu'el Bait St 12, Jerusalem 9103102, Israel.; Barriales-Villa R; Unidad de Cardiopatías Familiares, Hospital Universitario da Coruña, (INIBIC/CIBERCV), As Xubias, 84, 15006 A Coruña, Spain.; Mignani R; Department of Nephrology, Infermi Hospital, Viale Luigi Settembrini, 2, 47923 Rimini, RN, Italy.; Pawlaczyk K; Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, Collegium Maius, Fredry 10, 61-701 Poznań, Poland.; Pieruzzi F; Nephrology Clinic, School of Medicine and Surgery, University of Milano-Bicocca, Piazza dell'Ateneo Nuovo, 1, 20126 Milano, MI, Italy; Nephrology and Dialysis Department, ASST-Monza, San-Gerardo Hospital, Via Aliprandi, 23, 20900 Monza, MB, Italy.; Terryn W; General Internal Medicine and Nephrology, Jan Yperman Hospital, Briekestraat 12, 8900 Ypres, Belgium.; Vujkovac B; Fabry Center, Slovenj Gradec General Hospital, Gosposvetska cesta 3, 2380 Slovenj Gradec, Slovenia.; Ortiz A; Jiménez Díaz Foundation University Hospital, Avda. Reyes Católicos, 2, 28040 Madrid, Spain; Department of Medicine, Universidad Autonoma de Madrid, Ciudad Universitaria de Cantoblanco, 28049 Madrid, Spain. Electronic address: aortiz@fjd.es.
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
Ponikvar, Buturović J.; Adamlje, T.; Blanuša, D.; Ceglar, Z.; Cimerman-Steklasa, S.; Čufer, A.; Drozg, A.; Ekart, R.; Guček, A.; Kandus, A.; Kapun, S.; Kralj-Lopert, S.; Kralj, S.; Malovrh, M.; Močivnik, M.; Novljan, G.; Ponikvar, R.; Rus, I.; Saksida, S.; Stevanovic, Z.; Vujkovac, B.
Artificial Organs. Sep 01, 2011 35(9):A109-A110
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[검색어] Vujkovac, B.
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