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1دورية أكاديمية
المؤلفون: Bart Ferwerda, Matthew B B McCall, Maaike C de Vries, Joost Hopman, Boubacar Maiga, Amagana Dolo, Ogobara Doumbo, Modibo Daou, Dirk de Jong, Leo A B Joosten, Rudi A Tissingh, Frans A G Reubsaet, Robert Sauerwein, Jos W M van der Meer, André J A M van der Ven, Mihai G Netea
المصدر: PLoS ONE, Vol 4, Iss 9, p e6870 (2009)
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jorrit Broertjes, Eelco Franz, Ingrid H.M. Friesema, Hugo-Jan Jansen, Frans A.G. Reubsaet, Saskia A. Rutjes, Cornelis Stijnis, Bettie C.G. Voordouw, Maaike C. de Vries, Daan W. Notermans, Martin P. Grobusch
المصدر: Emerging Infectious Diseases, Vol 29, Iss 7, Pp 1-9 (2023)
مصطلحات موضوعية: epidemiology, pathogens, bacteria, viruses, diseases, biosecurity, Medicine, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Jelmer Savelkoel, Rita O. Oladele, Chiedozie K. Ojide, Rebecca F. Peters, Daan W. Notermans, Justina O. Makinwa, Maaike C. de Vries, Marion A.E. Sunter, Sébastien Matamoros, Nasiru Abdullahi, Uche S. Unigwe, Alani S. Akanmu, W. Joost Wiersinga, Emma Birnie
المصدر: Emerging Infectious Diseases, Vol 29, Iss 5, Pp 1073-1075 (2023)
مصطلحات موضوعية: Burkholderia pseudomallei, Burkholderia thailandensis, melioidosis, Nigeria, environmental study, bacteria, Medicine, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Kim F. E. van de Loo, José A. E. Custers, Lonneke de Boer, Marloes van Lieshout, Maaike C. de Vries, Mirian C. H. Janssen, Christianne M. Verhaak
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
مصطلحات موضوعية: Mitochondrial disease, Disease manifestation, Cognitive functioning, Attention, Working memory, Mental health, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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5دورية أكاديمية
المؤلفون: Jolianne M. Rijks, Anna D. Tulen, Daan W. Notermans, Frans A.G. Reubsaet, Maaike C. de Vries, Miriam G.J. Koene, Corien M. Swaan, Miriam Maas
المصدر: Emerging Infectious Diseases, Vol 28, Iss 4, Pp 883-885 (2022)
مصطلحات موضوعية: tularemia, Francisella tularensis, bacteria, zoonoses, human, transmission, Medicine, Infectious and parasitic diseases, RC109-216
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Annemarijne R.J. Veenvliet, Mark R. Garrelfs, Floris E.A. Udink ten Cate, Sacha Ferdinandusse, Simone Denis, Sabine A. Fuchs, Marit Schwantje, Rosa Geurtzen, Annemiek M.J. van Wegberg, Marleen C.D.G. Huigen, Leo A.J. Kluijtmans, Ronald J.A. Wanders, Terry G.J. Derks, Lonneke de Boer, Riekelt H. Houtkooper, Maaike C. de Vries, Clara D.M. van Karnebeek
المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100873- (2022)
مصطلحات موضوعية: Long-chain 3-keto-acyl CoA thiolase (LCKAT), Fatty acid oxidation disorder, HADHB, Cardiomyopathy, MTP, Ketones, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Maaike C. de Vries, B. J. A. Hoeve-Bakker, Maaike J. C. van den Beld, Amber C. A. Hendriks, Airien S. D. Harpal, Ramón C. E. A. Noomen, Frans A. G. Reubsaet
المصدر: Microorganisms, Vol 11, Iss 4, p 905 (2023)
مصطلحات موضوعية: tularemia, MALDI-TOF MS, biomarkers, in-house library, Francisella, identification, Biology (General), QH301-705.5
وصف الملف: electronic resource
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8
المؤلفون: Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser
المساهمون: Pediatrics, Clinical chemistry, ACS - Diabetes & metabolism, Paediatric Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, ACS - Heart failure & arrhythmias, Laboratory for General Clinical Chemistry, Paediatrics, Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818 . https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818مصطلحات موضوعية: mitochondrial trifunctional protein complex, Mitochondrial Trifunctional Protein, newborn screening, LCKAT deficiency, Infant, Newborn, LCHAD deficiency, 3-Hydroxyacyl CoA Dehydrogenases, Mitochondrial Myopathies, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Hypoglycemia, Lipid Metabolism, Inborn Errors, Rhabdomyolysis, Neonatal Screening, MTP deficiency, Genetics, Humans, Nervous System Diseases, long-chain fatty acid oxidation, Cardiomyopathies, Molecular Biology, Genetics (clinical), Netherlands, Retrospective Studies
وصف الملف: application/pdf
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9
المؤلفون: Jolianne M. Rijks, Anna D. Tulen, Daan W. Notermans, Frans A.G. Reubsaet, Maaike C. de Vries, Miriam G.J. Koene, Corien M. Swaan, Miriam Maas
المصدر: Emerging Infectious Diseases, 28(4), 883-885
Emerging Infectious Diseases 28 (2022) 4مصطلحات موضوعية: Host Pathogen Interaction & Diagnostics, Microbiology (medical), Epidemiology, Bacteriologie, the Netherlands, transmission, Bacteriology, Bacteriology, Host Pathogen Interaction & Diagnostics, Host Pathogen Interactie & Diagnostiek, tularemia, zoonoses, Infectious Diseases, Bacteriologie, Host Pathogen Interactie & Diagnostiek, Animals, Humans, Life Science, human, ecology, Francisella tularensis, bacteria, Netherlands
وصف الملف: application/octet-stream; application/pdf
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10
المؤلفون: Elise A. Ferreira, Annemarijne R.J. Veenvliet, Udo F.H. Engelke, Leo A.J. Kluijtmans, Marleen C.D.G. Huigen, Brechtje Hoegen, Lonneke de Boer, Maaike C. de Vries, Bregje W. van Bon, Erika Leenders, Elisabeth A.M. Cornelissen, Charlotte A. Haaxma, Jolanda H. Schieving, M. Estela Rubio-Gozalbo, Irene M.L.W. Körver-Keularts, Lara M. Marten, Susann Diegmann, Jeroen Mourmans, Alexander J.M. Rennings, Clara D.M. van Karnebeek, Richard J. Rodenburg, Karlien L.M. Coene
المساهمون: Pediatrics, Graduate School, Paediatric Pulmonology, Paediatric Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: Genetics in Medicine, 25(1), 125-134. Lippincott Williams and Wilkins
Ferreira, E A, Veenvliet, A R J, Engelke, U F H, Kluijtmans, L A J, Huigen, M C D G, Hoegen, B, de Boer, L, de Vries, M C, van Bon, B W, Leenders, E, Cornelissen, E A M, Haaxma, C A, Schieving, J H, Rubio-Gozalbo, M E, Körver-Keularts, I M L W, Marten, L M, Diegmann, S, Mourmans, J, Rennings, A J M, van Karnebeek, C D M, Rodenburg, R J & Coene, K L M 2023, ' Diagnosing, discarding, or de-VUSsing : A practical guide to (un)targeted metabolomics as variant-transcending functional tests ', Genetics in Medicine, vol. 25, no. 1, pp. 125-134 . https://doi.org/10.1016/j.gim.2022.10.002
Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 125-134
Genetics in Medicine, 25(1), 125-134. Nature Publishing Group
Genetics in Medicine, 25, 1, pp. 125-134مصطلحات موضوعية: Exome sequencing, All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Metabolomics, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Inborn errors of metabolism, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Functional test, Genome sequencing, Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6af089065fb3e1c4e83410f8c0f4dca8
https://pubmed.ncbi.nlm.nih.gov/36350326