학술논문
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'학술논문'
에서 검색결과 64건 | 목록
1~20
Academic Journal
Decru, Bram ; Lys, Marine ; Truijens, Kobe ; Mercier, Nathalie ; Papadopoulos, Jean ; Rymen, Daisy ; Roland, Dominique ; Dewulf, Joseph P. ; Vermeersch, Pieter
In Molecular Genetics and Metabolism January 2025 144(1)
Academic Journal
Fontaine, Monique ; Kim, Isabelle ; Dessein, Anne-Frédérique ; Mention-Mulliez, Karine ; Dobbelaere, Dries ; Douillard, Claire ; Sole, Guilhem ; Schiff, Manuel ; Jaussaud, Roland ; Espil-Taris, Caroline ; Boutron, Audrey ; Wuyts, Wim ; Acquaviva, Cécile ; Vianey-Saban, Christine ; Roland, Dominique ; Joncquel-Chevalier Curt, Marie ; Vamecq, Joseph
In Molecular Genetics and Metabolism April 2018 123(4):441-448
Academic Journal
Grünert, Sarah Catharina ; Schlatter, Sonja Marina ; Schmitt, Robert Niklas ; Gemperle-Britschgi, Corinne ; Mrázová, Lenka ; Balcı, Mehmet Cihan ; Bischof, Felix ; Çoker, Mahmut ; Das, Anibh M. ; Demirkol, Mübeccel ; de Vries, Maaike ; Gökçay, Gülden ; Häberle, Johannes ; Uçar, Sema Kalkan ; Lotz-Havla, Amelie Sophia ; Lücke, Thomas ; Roland, Dominique ; Rutsch, Frank ; Santer, René ; Schlune, Andrea ; Staufner, Christian ; Schwab, Karl Otfried ; Mitchell, Grant A. ; Sass, Jörn Oliver
In Molecular Genetics and Metabolism July 2017 121(3):206-215
Academic Journal
Roland, Dominique ; Jissendi-Tchofo, Patrice ; Briand, Gilbert ; Vamecq, Joseph ; Fontaine, Monique ; Ultré, Vincent ; Acquaviva-Bourdain, Cécile ; Mention, Karine ; Dobbelaere, Dries
In Molecular Genetics and Metabolism June 2017 121(2):111-118
Academic Journal
Allegri, Gabriella; Poms, Martin; Zürcher, Nadia; Rüfenacht, Véronique; Rimann, Nicole; Mathis, Déborah; Thöny, Beat; Gautschi, Matthias; Husain, Ralf A.; Karall, Daniela; Orchel-Szastak, Karolina; Porta, Francesco; Roland, Dominique; Siri, Barbara; Dionisi-Vici, Carlo; Santer, René; Häberle, Johannes
npj Metabolic Health and Disease. 3(1)
Academic Journal
Rice, Gillian ; Patrick, Teresa ; Parmar, Rekha ; Taylor, Claire F. ; Aeby, Alec ; Aicardi, Jean ; Artuch, Rafael ; Montalto, Simon Attard ; Bacino, Carlos A. ; Barroso, Bruno ; Baxter, Peter ; Benko, Willam S. ; Bergmann, Carsten ; Bertini, Enrico ; Biancheri, Roberta ; Blair, Edward M. ; Blau, Nenad ; Bonthron, David T. ; Briggs, Tracy ; Brueton, Louise A. ; Brunner, Han G. ; Burke, Christopher J. ; Carr, Ian M. ; Carvalho, Daniel R. ; Chandler, Kate E. ; Christen, Hans-Jürgen ; Corry, Peter C. ; Cowan, Frances M. ; Cox, Helen ; D’Arrigo, Stefano ; Dean, John ; De Laet, Corinne ; De Praeter, Claudine ; Déry, Catherine ; Ferrie, Colin D. ; Flintoff, Kim ; Frints, Suzanna G.M. ; Garcia-Cazorla, Angels ; Gener, Blanca ; Goizet, Cyril ; Goutières, Françoise ; Green, Andrew J. ; Guët, Agnès ; Hamel, Ben C.J. ; Hayward, Bruce E. ; Heiberg, Arvid ; Hennekam, Raoul C. ; Husson, Marie ; Jackson, Andrew P. ; Jayatunga, Rasieka ; Jiang, Yong-Hui ; Kant, Sarina G. ; Kao, Amy ; King, Mary D. ; Kingston, Helen M. ; Klepper, Joerg ; van der Knaap, Marjo S. ; Kornberg, Andrew J. ; Kotzot, Dieter ; Kratzer, Wilfried ; Lacombe, Didier ; Lagae, Lieven ; Landrieu, Pierre Georges ; Lanzi, Giovanni ; Leitch, Andrea ; Lim, Ming J. ; Livingston, John H. ; Lourenco, Charles M. ; Lyall, E. G. Hermione ; Lynch, Sally A. ; Lyons, Michael J. ; Marom, Daphna ; McClure, John P. ; McWilliam, Robert ; Melancon, Serge B. ; Mewasingh, Leena D. ; Moutard, Marie-Laure ; Nischal, Ken K. ; Østergaard, John R. ; Prendiville, Julie ; Rasmussen, Magnhild ; Rogers, R. Curtis ; Roland, Dominique ; Rosser, Elisabeth M. ; Rostasy, Kevin ; Roubertie, Agathe ; Sanchis, Amparo ; Schiffmann, Raphael ; Scholl-Bürgi, Sabine ; Seal, Sunita ; Shalev, Stavit A. ; Corcoles, C. Sierra ; Sinha, Gyan P. ; Soler, Doriette ; Spiegel, Ronen ; Stephenson, John B.P. ; Tacke, Uta ; Tan, Tiong Yang ; Till, Marianne ; Tolmie, John L. ; Tomlin, Pam ; Vagnarelli, Federica ; Valente, Enza Maria ; Van Coster, Rudy N.A. ; Van der Aa, Nathalie ; Vanderver, Adeline ; Vles, Johannes S.H. ; Voit, Thomas ; Wassmer, Evangeline ; Weschke, Bernhard ; Whiteford, Margo L. ; Willemsen, Michel A.A. ; Zankl, Andreas ; Zuberi, Sameer M. ; Orcesi, Simona ; Fazzi, Elisa ; Lebon, Pierre ; Crow, Yanick J.
In The American Journal of Human Genetics 2007 81(4):713-725
Academic Journal
Parenti, Giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose'; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A. M. E.; Del Toro Riera, Mireja; Germain, Dominique P.; Huidekoper, Hidde; van den Hout, Johanna M. P.; van der Ploeg, Ans T.; Baric, Ivo; Batzios, Spyros; Belmatoug, Nadia; Bordugo, Andrea; Bosch, Annet M.; Brassier, Anais; Burlina, Alberto; Cassiman, David; Chabrol, Brigitte; Chronopoulou, Efstathia; Couce-Pico, Maria Luz; Darin, Niklas; Das, Anibh M.; Debray, Francois G.; Deegan, Patrick; de Abreu Freire Diogo Matos, Luisa M.; De Las Heras Montero, Javier; Di Rocco, Maja; Dobbelaere, Dries; Eyskens, Francois; Ferreira, Ana; Gaspar, Ana M.; Gasperini, Serena; López, Antonio González-Meneses; Grosso, Salvatore; Guffon-Fouilhoux, Nathalie; Hennermann, Julia; Hiwot, Tarekegn G.; Jones, Simon; Kingma, Sandra; Komninaka, Veroniki; Martín-Hernández, Elena; Martins, Esmeralda; Miclea, Diana; Pfliegler, György; Rodrigues, Esmeralda; Rokicki, Dariusz; Roland, Dominique; Rutsch, Frank; Salviati, Alessandro; Tournev, Ivailo; Ullrich, Kurt; van Hasselt, Peter M.; Vijay, Suresh; Weinhold, Natalie; Witters, Peter; Zeman, Jiri
Orphanet Journal of Rare Diseases. November 1, 2024, Vol. 19 Issue 1
Academic Journal
Heard, Jean-Michel; Vrinten, Charlotte; Schlander, Michael; Bellettato, Cinzia Maria; van Lingen, Corine; Scarpa, Maurizio; the MetabERN collaboration group; Matthijs, Gert; Nassogne, Marie-Cécile; Debray, François-Guillaume; Roland, Dominique; Chamova, Teodora; Kozich, Viktor; Pavel, Jesina; Zenker, Martin; Lampe, Christina; Das, Anihb Martin; Hennermann, Julia; Kölker, Stefan; Weinhold, Natalie
Academic Journal
Journal of Clinical Endocrinology & Metabolism. June, 2020, Vol. 105 Issue 6, p1973, 10 p.
Academic Journal
Mandia, Daniele; Chaussenot, Annabelle; Besson, Gérard; Lamari, Foudil; Castelnovo, Giovanni; Curot, Jonathan; Duval, Fanny; Giral, Philippe; Lecerf, Jean-Michel; Roland, Dominique; Pierdet, Heloise; Douillard, Claire; Nadjar, Yann
Academic Journal
Mütze U; Centre for Child and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Gleich F; Centre for Child and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Barić I; University of Zagreb, School of Medicine and Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia.; Baumgartner M; University Children's Hospital and Children's Research Center, University of Zurich, Zurich, Switzerland.; Burlina A; Division of Inherited Metabolic Disease, University Hospital Padova, Padova, Italy.; Chapman KA; Children's National Medical Center, Washington, DC, USA.; Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.; Cortès-Saladelafont E; University Hospital Germans Trias i Pujol, Department of Paediatrics, Unit of Inherited Metabolic Diseases and Neuropediatrics, Universitat Autònoma de Barcelona, Badalona, Spain.; De Laet C; Hôpital Universitaire des Enfants Reine Fabiola-Université Libre de Bruxelles, Brussels, Belgium.; Dobbelaere D; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases, CHRU Lille, Lille, France.; Eysken F; Department of Pediatric Inherited Metabolic Diseases, University Hospital of Antwerp UZA, Antwerp, Belgium.; Gautschi M; Department of Paediatrics, Division of Paediatric Endocrinology, Diabetology and Metabolism, Inselspital, University Hospital Bern, Bern, Switzerland.; Santer R; University Children's Hospital, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.; Häberle J; University Children's Hospital and Children's Research Center, University of Zurich, Zurich, Switzerland.; Joaquín C; Endocrinology and Nutrition Department, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.; Karall D; Clinic for Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; Lindner M; Goethe University Frankfurt/Main, Uni.-Children's Hospital, Frankfurt/Main, Germany.; Lund AM; Centre Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Mühlhausen C; Universitätsmedizin Göttingen, Georg-August-Universität, Göttingen, Germany.; Murphy E; National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit, London, UK.; Roland D; Institute of Pathology and Human Genetics (IPG), Charlerois, Belgium.; Ruiz Gomez A; Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Skouma A; Institouto Ygeias Tou Paidiou, Institute of Child Health, Athens, Greece.; Grünert SC; Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Centre, University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Wagenmakers M; Erasmus Medical Center, Rotterdam, The Netherlands.; Garbade SF; Centre for Child and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Kölker S; Centre for Child and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Boy N; Centre for Child and Adolescent Medicine, Division of Neuropaediatrics and Metabolic Medicine, Department of General Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.
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
Mütze, Ulrike; Gleich, Florian; Barić, Ivo; Baumgartner, Mathias; Burlina, Alberto; Chapman, Kimberly A.; Chien, Yin-Hsiu; Cortès-Saladelafont, Elisenda; De Laet, Corinne; Dobbelaere, Dries; Eysken, Francois; Gautschi, Matthias; Santer, Rene; Häberle, Johannes; Joaquín, Clara; Karall, Daniela; Lindner, Martin; Lund, Allan M.; Mühlhausen, Chris; Murphy, Elaine; Roland, Dominique; Ruiz Gomez, Angeles; Skouma, Anastasia; Grünert, Sarah C.; Wagenmakers, Margreet; Garbade, Sven F.; Kölker, Stefan; Boy, Nikolas
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Universitat Autònoma de Barcelona
Academic Journal
Posset, Roland; Garbade, Sven F.; Gleich, Florian; Gropman, Andrea L.; de Lonlay, Pascale; Hoffmann, Georg F.; Garcia-Cazorla, Angeles; Nagamani, Sandesh C. S.; Baumgartner, Matthias R.; Schulze, Andreas; Dobbelaere, Dries; Yudkoff, Marc; Kölker, Stefan; Zielonka, Matthias; Ah Mew, Nicholas; Berry, Susan A.; McCandless, Shawn E.; Coughlin, Curtis; Enns, Gregory; Gallagher, Renata C.; Burrage, Lindsay C.; Seminara, Jennifer; Harding, Cary O.; Burgard, Peter; Le Mons, Cynthia; Merritt, J. Lawrence; Stricker, Tamar; Bedoyan, Jirair K.; Berry, Gerard T.; Diaz, George A.; Wong, Derek; Tuchman, Mendel; Waisbren, Susan; Weisfeld- Adams, James D.; Burlina, Alberto B.; Leão Teles, Elisa; Pedrón-Giner, Consuelo; Lund, Allan M.; Dionisi-Vici, Carlo; Williams, Monique; Mütze, Ulrike; Karall, Daniela; Blasco-Alonso, Javier; Couce, Maria L.; Sykut-Cegielska, Jolanta; Augoustides-Savvopoulou, Persephone; Ruiz Gomez, Angeles; Barić, Ivo; Schiff, Manuel; Chien, Yin-Hsiu; Lindner, Martin; Chabrol, Brigitte; Skouma, Anastasia; Zeman, Jiri; Sokal, Etienne; Santer, René; Eyskens, Francois; Freisinger, Peter; Peña-Quintana, Luis; Roland, Dominique; Cortès-Saladelafont, Elisenda; Djordjevic, Maja; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD)
Sci Rep
Scientific Reports [EISSN 2045-2322], v. 10 (1), 11948, (Julio 2020)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
instname
Scientific Reports, Vol. 10, no. 1, p. 11948 [1-13] (2020)
Scientific Reports, vol 10, iss 1
Scientific Reports [EISSN 2045-2322], v. 10 (1), 11948, (Julio 2020)
accedaCRIS portal de investigación de la Universidad de las Palmas de Gran Canaria
instname
Scientific Reports, Vol. 10, no. 1, p. 11948 [1-13] (2020)
Scientific Reports, vol 10, iss 1
Academic Journal
Wuyts, Wim; Roland, Dominique; Lüdecke, Hermann-Josef; Wauters, Jan; Foulon, Martine; Van Hul, Wim; van Maldergem, Lionel
American journal of medical genetics
Academic Journal
Karadurmus, Deniz; Brohee, Sylvain; Mary, Sandrine; Benoit, Valerie; Destree, Anne; Roland, Dominique; Hilbert, Pascale
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[AR] Roland, Dominique
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