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1Academic Journal
المؤلفون: Nils Helsen, Dessie Roothans, Bert Van Den Heuvel, Tim Van den Wyngaert, Danielle Van den Weyngaert, Laurens Carp, Sigrid Stroobants
المصدر: PLoS ONE, Vol 12, Iss 8, p e0182350 (2017)
وصف الملف: electronic resource
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المؤلفون: Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, Omar A.Z. Tutakhel, Liesbeth T. Wintjes, Bert van den Heuvel, Peter H.G.M. Willems, Erik-Jan Kamsteeg, M. Estela Rubio Gozalbo, Suzanne C.E.H. Sallevelt, Suzanne M. Koudijs, Joost Nicolai, Charlotte I. de Bie, Jessica E. Hoogendijk, Werner J.H. Koopman, Richard J. Rodenburg
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المؤلفون: Koenraad Veys, Ward Zadora, Katharina Hohenfellner, Detlef Bockenhauer, Mirian C. H. Janssen, Patrick Niaudet, Aude Servais, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Nele Kanzelmeyer, Lars Pape, Elke Wühl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Bert van den Heuvel, Elena Levtchenko
المصدر: Journal of Inherited Metabolic Disease, 46(1), 43-54. SPRINGER
Journal of Inherited Metabolic Disease, 46, 43-54
Journal of Inherited Metabolic Disease, 46, 1, pp. 43-54مصطلحات موضوعية: cystinosis, All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], newborn screening, genotype, outcome, Genetics, Medizin, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], siblings, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Vincent Schlesser, Christine Geron, Ronit Chafai, L Bert van den Heuvel, Hilde Laeremans, Emmanuel Scalais, Patricia Borde, Elise Osterheld, Koen L I van Gassen, Linda De Meirleir, Luc Regal, Charlotte Pierron
المساهمون: Pediatrics, Faculty of Law and Criminology
المصدر: JIMD Reports, Vol 49, Iss 1, Pp 70-79 (2019)
JIMD Reports
JIMD reports, 49 (1
Jimd Reports, 49, 70-79
JIMD Reports, 49(1), 70. Springer Berlin
Jimd Reports, 49, 1, pp. 70-79مصطلحات موضوعية: Research Report, medicine.medical_specialty, hemolytic‐uremic syndrome, Homocysteine, lcsh:QH426-470, Endocrinology, Diabetes and Metabolism, Methylmalonic acid, Neurological examination, methylmalonic aciduria, Lower risk, Biochemistry, Genetics and Molecular Biology (miscellaneous), Cobalamin, Gastroenterology, lcsh:Diseases of the endocrine glands. Clinical endocrinology, early onset cobalamin metabolism defects, subcutaneous injection port, chemistry.chemical_compound, Internal medicine, Internal Medicine, medicine, Journal Article, parenteral hydroxocobalamin dose intensification, lcsh:RC648-665, medicine.diagnostic_test, business.industry, Généralités, Research Reports, homocysteine, Hydroxocobalamin, methylmalonic aciduria with homocystinuria, lcsh:Genetics, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Tolerability, chemistry, hemolytic-uremic syndrome, CBLC, business, medicine.drug
وصف الملف: Electronic-eCollection; 1 full-text file(s): application/pdf; application/pdf; image/pdf; text/plain
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المؤلفون: Bert van den Heuvel, Nicole C. A. J. van de Kar, Elena B. Volokhina, Marloes A. H. M. Michels
المصدر: Methods in Molecular Biology, pp. 83-96
MIMB ; 2227, 83-96. [S.l.] : Springer
STARTPAGE=83;ENDPAGE=96;TITLE=MIMB ; 2227
The Complement System ISBN: 9781071610152مصطلحات موضوعية: 0301 basic medicine, Innate immune system, 030232 urology & nephrology, Autoantibody, Eculizumab, Biology, medicine.disease, MIMB, C3-convertase, Complement system, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Glomerulopathy, Atypical hemolytic uremic syndrome, Immunology, medicine, Alternative complement pathway, medicine.drug
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المؤلفون: Sante Princiero Berlingerio, Dries David, Fanny Oliveira Arcolino, Bert van den Heuvel, Mohamed A. Elmonem, Neveen A. Soliman, Elena Levtchenko, Rik Gijsbers
المصدر: Nephron. 141:133-146
مصطلحات موضوعية: Genetics, business.industry, Genetic enhancement, Autophagy, 030232 urology & nephrology, Cystine, 030204 cardiovascular system & hematology, medicine.disease, Phenotype, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cystinosin, chemistry, Cystinosis, Lysosomal storage disease, Medicine, business, Gene
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7Academic Journal
المؤلفون: Cristina Ugalde, Rutger Vogel, Richard Huijbens, Bert Van Den Heuvel, Jan Smeitink, Leo Nijtmans
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.314.2877; http://hmg.oxfordjournals.org/content/13/20/2461.full.pdf
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المؤلفون: Dries, David, Sante, Princiero Berlingerio, Mohamed A, Elmonem, Fanny, Oliveira Arcolino, Neveen, Soliman, Bert, van den Heuvel, Rik, Gijsbers, Elena, Levtchenko
المصدر: Nephron. 141(2)
مصطلحات موضوعية: Disease Models, Animal, Amino Acid Transport Systems, Neutral, Phenotype, DNA Repair, Genotype, Geography, Incidence, Cystinosis, Mutation, Animals, Humans
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المصدر: Pediatric Nephrology, 31, 1267-1279
Pediatric Nephrology, 31, 8, pp. 1267-1279مصطلحات موضوعية: Nephrology, Blood Platelets, medicine.medical_specialty, Nephrotic Syndrome, Nephrosis, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Platelet, Child, Thrombocytosis, business.industry, medicine.disease, Thrombosis, Venous thrombosis, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Pediatrics, Perinatology and Child Health, Immunology, business, Nephrotic syndrome, Kidney disease
وصف الملف: application/pdf
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المؤلفون: Andre J Vlot, Martine Raphael, L Thom Vlasveld, Tessa M. A. Peters, A. Birgitta Versluijs, Alexander J. Rennings, Dorine W. Swinkels, Bert van den Heuvel, Mirian C. H. Janssen, Frank L. van de Veerdonk, Michel van Gelder, Dirk L Bakkeren, Charlotte C.M. Schaap, Bernd Granzen, Anita W. Rijneveld, Paul P. T. Brons, V.M.J. Novotny, Albertine E. Donker, Inge M. Appel, R.J.H. Smeets, M.R. Nijziel
المساهمون: AII - Infectious diseases, Hematology, Pediatrics, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, MUMC+: MA Hematologie (9), Interne Geneeskunde, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9)
المصدر: American Journal of Hematology, 91, E482-e490
Donker, A E, Schaap, C C M, Novotny, V M J, Smeets, R, Peters, T M A, van den Heuvel, B L P, Raphael, M F, Rijneveld, A W, Appel, I M, Vlot, A J, Versluijs, A B, van Gelder, M, Granzen, B, Janssen, M C H, Rennings, A J M, van de Veerdonk, F L, Brons, P P T, Bakkeren, D L, Nijziel, M R, Vlasveld, L T & Swinkels, D W 2016, ' Iron refractory iron deficiency anemia : a heterogeneous disease that is not always iron refractory ', American Journal of Hematology, vol. 91, no. 12, pp. E482-E490 . https://doi.org/10.1002/ajh.24561
American Journal of Hematology, 91(12), E482-E490. Wiley-Liss Inc.
American Journal of Hematology, 91(12), E482-E490. Wiley
American Journal of Hematology, 91, 12, pp. E482-e490
American Journal of Hematology, 91(12), E482. Wiley-Liss Inc.
American Journal of Hematologyمصطلحات موضوعية: Adult, Male, 0301 basic medicine, TMPRSS6, Adolescent, Anemia, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Biology, Young Adult, 03 medical and health sciences, Hepcidin, Genotype, E‐ONLY Articles, medicine, Journal Article, Humans, Child, Research Articles, Netherlands, Anemia, Iron-Deficiency, Transferrin saturation, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, Newborn, Infant, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Hematology, Iron deficiency, Middle Aged, medicine.disease, Hypochromic anemia, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, Child, Preschool, Immunology, biology.protein, Female, Hemoglobin, Research Article
وصف الملف: image/pdf; application/pdf
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المؤلفون: Maria Svelto, Elena Levtchenko, Bert van den Heuvel, Annarita Di Mise, Giovanna Valenti, Marianna Ranieri, Grazia Tamma
المصدر: American Journal of Physiology-Renal Physiology. 308:F1200-F1206
مصطلحات موضوعية: medicine.medical_specialty, Physiology, chemistry.chemical_element, Cell Separation, Biology, Calcium, Endoplasmic Reticulum, Cell Line, chemistry.chemical_compound, Internal medicine, Phenethylamines, medicine, Humans, Calcium Signaling, Receptor, Calcium signaling, Aniline Compounds, Forskolin, Propylamines, Endoplasmic reticulum, Epithelial Cells, Cell biology, Endocrinology, chemistry, Cell culture, Calcium-sensing receptor, Receptors, Calcium-Sensing, Intracellular
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المؤلفون: Bert Van Den Heuvel, Dessie Roothans, Nils Helsen, Tim Van den Wyngaert, Danielle Van den Weyngaert, Laurens Carp, Sigrid Stroobants
المصدر: PLoS ONE
PLoS ONE, Vol 12, Iss 8, p e0182350 (2017)مصطلحات موضوعية: Oncology, Male, Neoplasm, Residual, medicine.medical_treatment, Cancer Treatment, lcsh:Medicine, Kaplan-Meier Estimate, 030218 nuclear medicine & medical imaging, Diagnostic Radiology, 0302 clinical medicine, Surgical oncology, Positron Emission Tomography Computed Tomography, Medicine and Health Sciences, Medicine, lcsh:Science, Tomography, Aged, 80 and over, Multidisciplinary, medicine.diagnostic_test, Radiology and Imaging, Squamous Cell Carcinomas, Middle Aged, Prognosis, Head and Neck Tumors, Surgical Oncology, Positron emission tomography, Head and Neck Neoplasms, 030220 oncology & carcinogenesis, Area Under Curve, Carcinoma, Squamous Cell, Female, Radiology, Anatomy, Engineering sciences. Technology, Research Article, Adult, Clinical Oncology, medicine.medical_specialty, Imaging Techniques, Radiation Therapy, Neuroimaging, Research and Analysis Methods, Sensitivity and Specificity, Carcinomas, Lymphatic System, 03 medical and health sciences, Head and Neck Squamous Cell Carcinoma, Fluorodeoxyglucose F18, Diagnostic Medicine, Internal medicine, Cancer Detection and Diagnosis, Humans, neoplasms, Aged, Proportional Hazards Models, Retrospective Studies, business.industry, Proportional hazards model, Squamous Cell Carcinoma of Head and Neck, Head and neck cancer, lcsh:R, Cancers and Neoplasms, Biology and Life Sciences, Neck dissection, Retrospective cohort study, medicine.disease, Head and neck squamous-cell carcinoma, Radiation therapy, Logistic Models, ROC Curve, Head and Neck Cancers, lcsh:Q, Lymph Nodes, Radiopharmaceuticals, Clinical Medicine, business, Positron Emission Tomography, Neck, Neuroscience
وصف الملف: pdf
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المؤلفون: Bert van den Heuvel, Richard J.H. Smith, Santiago Rodríguez de Córdoba, Amy J. Osborne, Timothy H.J. Goodship, Stephen J. Perkins, Marina Noris, Véronique Frémeaux-Bacchi
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: business.industry, Immunology, Genetic variants, Immunology and Allergy, Medicine, Hematology, Computational biology, Bioinformatics, business, Allele frequency, Gene, Function (biology), Complement (complexity)
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المؤلفون: Bert van den Heuvel, Sanne van Kraaij, Anna M. Blom, Nicole C. A. J. van de Kar, Elena B. Volokhina, Marcin Okroj, Marloes A. H. M. Michels
المصدر: Molecular Immunology. 89:174-175
مصطلحات موضوعية: business.industry, Immunology, Medicine, In patient, Translation (biology), business, Molecular Biology, Complement (complexity)
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المؤلفون: Anna M. Blom, Bert van den Heuvel, Rianne van Sloten, Marloes A. H. M. Michels, Marcin Okroj, Nicole C. A. J. van de Kar, Thea J A M van der Velden, Elena B. Volokhina
المصدر: Molecular Immunology. 89:201-202
مصطلحات موضوعية: biology, Biochemistry, Chemistry, Immunology, biology.protein, Antibody, Molecular Biology
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المؤلفون: Elena Levtchenko, Maria Van Dyck, Mirian C. H. Janssen, Pascale Quatresooz, Elisabeth A.M. Cornelissen, Katharina Hohenfellner, Bert van den Heuvel, Mohamed A. Elmonem, Koenraad Veys, Ahmed Reda, Marc Boone, Frans Dhaenens
المصدر: Journal of Investigative Dermatology, 139, 10, pp. 2242-2245.e5
Journal of Investigative Dermatology, 139, 2242-2245.e5مصطلحات موضوعية: IN-VIVO ASSESSMENT, medicine.medical_specialty, Science & Technology, medicine.diagnostic_test, business.industry, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Cell Biology, Dermatology, medicine.disease, Biochemistry, Skin Aging, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], DIFFERENTIATION, Optical coherence tomography, Nephropathic Cystinosis, Reference values, Ophthalmology, medicine, High definition, business, Life Sciences & Biomedicine, Molecular Biology, Kidney transplantation
وصف الملف: Print-Electronic
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المؤلفون: Bert van den Heuvel, François B. Lepira, D. Betukumesu, Michel Ntetani Aloni, Pepe M. Ekulu, Elena Levtchenko, Agathe B Nkoy
المصدر: Nephrology Dialysis Transplantation. 33:i630-i630
مصطلحات موضوعية: Transplantation, medicine.medical_specialty, Nephrology, business.industry, Hiv infected, Internal medicine, medicine, Central africa, Disease, business
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المؤلفون: Bert, VAN DEN Heuvel, Marc, Peeters, Alain, Hendlisz, Marc, VAN DEN Eynde, Godelieve, Machiels, Isabel, Dero, Karen, Geboes, Marc, DE Man, Koen, Hendrickx, Thierry, Delaunoit, Els, Monsaert, Erik, Vanderstraten, Jean L, VAN Laethem, Willem, Lybaert, Stephane, Holbrechts, Christian, Rolfo
المصدر: Minerva chirurgica.
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المصدر: BMJ Case Reports, 15, pii: bcr2015213928-pii: bcr2015213928
BMJ Case Reports, 15, pp. pii: bcr2015213928-pii: bcr2015213928
BMJ Case Reportsمصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, medicine.medical_treatment, 030232 urology & nephrology, Cardiomyopathy, Renal function, 030204 cardiovascular system & hematology, urologic and male genital diseases, Antibodies, Monoclonal, Humanized, Kidney, Article, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Atypical hemolytic uremic syndrome, medicine, Humans, Renal Insufficiency, Dialysis, Atypical Hemolytic Uremic Syndrome, business.industry, Infant, Correction, General Medicine, Plasmapheresis, Eculizumab, medicine.disease, Surgery, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], medicine.anatomical_structure, Cardiology, Female, business, Cardiomyopathies, medicine.drug
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المؤلفون: Bert van den Heuvel, Brigitte Welling, Gert Vriend, Eric A. Shoubridge, Orly Elpeleg, Jürgen Horst, Heleen Diepstra, Hana Antonicka, Florin Sasarman, Avraham Shaag, Jasmine Jacob-Hirsch, Paul Smits, Ann Saada, Gideon Rechavi, Richard J. Rodenburg, Jan A.M. Smeitink
المصدر: American Journal of Human Genetics, 79, 5, pp. 869-77
American Journal of Human Genetics, 79, 869-77مصطلحات موضوعية: Chemical and physical biology [NCMLS 7], Models, Molecular, Mitochondrial DNA, Energy and redox metabolism [NCMLS 4], Bioinformatics, Mitochondrial translation, Molecular Sequence Data, Mutant, Peptide Elongation Factor Tu, Mitochondrion, Biology, Guanosine triphosphate, medicine.disease_cause, DNA, Mitochondrial, Oxidative Phosphorylation, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial Proteins, chemistry.chemical_compound, Translational research [ONCOL 3], medicine, Genetics, Humans, Genetics(clinical), Amino Acid Sequence, Translation factor, Muscle, Skeletal, Gene, Cells, Cultured, Genetics (clinical), DNA Primers, Mutation, Base Sequence, Sequence Homology, Amino Acid, Fibroblasts, Peptide Elongation Factors, Mitochondria, Mitochondrial medicine [IGMD 8], Phenotype, Electron Transport Chain Complex Proteins, chemistry, Multiprotein Complexes, Cellular energy metabolism [UMCN 5.3]
وصف الملف: application/pdf
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