المؤلفون: Michiel Bongaerts, Purva Kulkarni, Alan Zammit, Ramon Bonte, Leo A. J. Kluijtmans, Henk J. Blom, Udo F. H. Engelke, David M. J. Tax, George J. G. Ruijter, Marcel J. T. Reinders

المصدر: Metabolites, Vol 13, Iss 1, p 97 (2023)

مصطلحات موضوعية: untargeted metabolomics, outlier detection, anomaly detection, one-class methods, IEM, inborn errors of metabolism, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/13/1/97; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/55277592bb904597a726162336280ba9

المؤلفون: Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter

المصدر: Metabolites, Vol 11, Iss 1, p 8 (2020)

مصطلحات موضوعية: untargeted metabolomics, inborn errors of metabolism, normalization, internal standards, batch effects, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-1989/11/1/8; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/547c2b9da39144a7b76688fd06dbf092

المؤلفون: Daniël P. de Bruyn, Michiel Bongaerts, Ramon Bonte, Jolanda Vaarwater, Magda A. Meester-Smoor, Robert M. Verdijk, Dion Paridaens, Nicole C. Naus, Annelies de Klein, George J. G. Ruijter, Emine Kiliç, Erwin Brosens

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 6; Pages: 5077

مصطلحات موضوعية: noninvasive, prognostication, biomarker, metabolomics, liquid biopsy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Oncology; https://dx.doi.org/10.3390/ijms24065077

الاتاحة: https://doi.org/10.3390/ijms24065077

المؤلفون: Ramon Bonte, Michiel Bongaerts, Serwet Demirdas, Janneke G. Langendonk, Hidde H. Huidekoper, Monique Williams, Willem Onkenhout, Edwin H. Jacobs, Henk J. Blom, George J. G. Ruijter

المصدر: Metabolites; Volume 9; Issue 12; Pages: 289

مصطلحات موضوعية: metabolomics, inborn errors of metabolism, LC-MS, HRAM-MS, Orbitrap, PFPP, IEM, organic aciduria, urea cycle defects, PKU

وصف الملف: application/pdf

Relation: Endocrinology and Clinical Metabolic Research; https://dx.doi.org/10.3390/metabo9120289

الاتاحة: https://doi.org/10.3390/metabo9120289

المؤلفون: Daniël P. Bruyn, Michiel Bongaerts, Ramon Bonte, Jolanda Vaarwater, Magda A. Meester-Smoor, Robert M. Verdijk, Dion Paridaens, Nicole C. Naus, Annelies Klein, George J.G. Ruijter, Emine Kiliç, Erwin Brosens

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::754befa981ea5d2369b2854d8293d2d3
https://doi.org/10.21203/rs.3.rs-2179877/v1

المؤلفون: Daniël P. de Bruyn, Michiel Bongaerts, Ramon Bonte, Jolanda Vaarwater, Magda A. Meester-Smoor, Robert M. Verdijk, Dion Paridaens, Nicole C. Naus, Annelies de Klein, George J.G. Ruijter, Emine Kiliç, Erwin Brosens

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::456cf26cc436e424961afd36bb7ce6c2
https://doi.org/10.1101/2022.09.14.22279822

المؤلفون: Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Hidde H. Huidekoper, Janneke Langendonk, Martina Wilke, Walter de Valk, Henk J. Blom, Marcel J.T. Reinders, George J.G. Ruijter

المساهمون: Clinical Genetics, Pediatrics, Internal Medicine, General practice

المصدر: Molecular Genetics and Metabolism, 136(3)
Molecular Genetics and Metabolism, 136(3), 199-218. Academic Press
Molecular Genetics and Metabolism, 136(3), 199-218. Academic Press Inc.

مصطلحات موضوعية: Untargeted metabolomics, Endocrinology, Diabetes and Metabolism, Genomics, Inborn errors of metabolism, Biochemistry, Endocrinology, ES, SDG 3 - Good Health and Well-being, Metabolic pathways, Genetics, Humans, Metabolomics, Data integration, CADD scores, Molecular Biology, Metabolic Networks and Pathways, Metabolism, Inborn Errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ca927e9acb73a18d27d91b375fed4bc
http://resolver.tudelft.nl/uuid:3bdf4687-ee41-4c3d-82cb-26796f1cbaed

المؤلفون: Henk J. Blom, Wilke M, Serwet Demirdas, Marcel J. T. Reinders, George J. G. Ruijter, de Valk W, Michiel Bongaerts, Huidekoper H, Janneke G. Langendonk, Ramon Bonte

مصطلحات موضوعية: Metabolite, Computational biology, Disease, Biology, medicine.disease, Phenotype, chemistry.chemical_compound, Metabolic pathway, Metabolomics, chemistry, Inborn error of metabolism, medicine, Gene, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c7e3c7613c08547b3a1d80b5cee565da
https://doi.org/10.1101/2021.05.21.21257573

المؤلفون: Esmee Oussoren, Henk J. Blom, Serwet Demirdas, Michiel Bongaerts, Ans T. van der Ploeg, Robert M.W. Hofstra, Marcel J. T. Reinders, Ramon Bonte, Ed H. Jacobs, George J. G. Ruijter, Margreet Wagenmakers

مصطلحات موضوعية: Mixed model, Normalization (statistics), chemistry.chemical_compound, Untargeted metabolomics, chemistry, Reference values, Metabolite, Statistics, Covariate, Regression analysis, Batch effect, Mathematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6b63b64cb935ff887780049a0c2cd0a

المؤلفون: Robert M.W. Hofstra, Matej Skorvanek, Zeliha Ozgur, Vincenzo Bonifati, Kees Schoonderwoerd, Simone Olgiati, Robert Jech, Frans W. Verheijen, Mirjam C G N van den Hout, Michelle Minneboo, Josja Graafland, Wim Mandemakers, Zuzana Gdovinova, Szu Chia Lai, Vladimir Han, Hsiu Chen Chang, Hsin Fen Chien, Ramon Bonte, Guido J. Breedveld, Tu Hsueh Yeh, Wilfred F. J. van IJcken, Marialuisa Quadri, Anneke J.A. Kievit, Egberto Reis Barbosa, Yah Huei Wu-Chou, George J. G. Ruijter, Chin Song Lu

المصدر: Movement Disorders. 31:1041-1048

مصطلحات موضوعية: 0301 basic medicine, Dystonia, Mutation, Pathology, medicine.medical_specialty, Paroxysmal exercise-induced dystonia, Metabolic disorder, Paroxysmal dyskinesia, Biology, medicine.disease, medicine.disease_cause, Bioinformatics, Compound heterozygosity, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, medicine, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing, Dystonic disorder

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b9b60ca1c184bdda6722bf239289a87b
https://doi.org/10.1002/mds.26610

المؤلفون: Hidde H Huidekoper, Willem Onkenhout, Ramon Bonte, Monique Williams, Edwin H. Jacobs, Serwet Demirdas, George J G Ruijter, Janneke G. Langendonk, Henk J Blom, Michiel Bongaerts

المساهمون: Clinical Genetics, Internal Medicine, Pediatrics

المصدر: Metabolites
Metabolites, 9(12):289. Multidisciplinary Digital Publishing Institute (MDPI)
Volume 9
Issue 12

مصطلحات موضوعية: 0301 basic medicine, HRAM-MS, Computer science, Endocrinology, Diabetes and Metabolism, PFPP, inborn errors of metabolism, Computational biology, Orbitrap, Biochemistry, Article, law.invention, 03 medical and health sciences, 0302 clinical medicine, Metabolomics, organic aciduria, law, Screening method, Sample preparation, Diagnostic screening, Molecular Biology, Orbitrap ms, IEM, metabolomics, LC-MS, 030104 developmental biology, Untargeted metabolomics, urea cycle defects, PKU, Semi automatic, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ceb10a9cd55328cb33ca6196cd8f677
https://pure.eur.nl/en/publications/b8daea14-675b-4daa-b905-bf52eea53166

المؤلفون: Nelson Neves, Ruben Ramos, Gajja S. Salomons, Ramon Bonte, Mirjam M.C. Wamelink, George J. G. Ruijter, Isabel Tavares de Almeida, Arvand Haschemi, Luísa Diogo, Benjamin Nota, Annette P. M. van den Elzen, Paula Garcia

المساهمون: Clinical Genetics, Laboratory Medicine, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease

المصدر: Wamelink, M M C, Ramos, R J J F, van den Elzen, A P M, Ruijter, G J G, Bonte, R, Diogo, L, Garcia, P, Neves, N, Nota, B, Haschemi, A, de Almeida, I T & Salomons, G 2015, ' First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? ', Journal of Inherited Metabolic Disease, vol. 38, no. 5, pp. 889-894 . https://doi.org/10.1007/s10545-014-9809-1
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 38(5), 889-894. Springer Netherlands

مصطلحات موضوعية: Male, medicine.medical_specialty, Anemia, media_common.quotation_subject, Nonsense mutation, Nonsense, Consanguinity, Gastroenterology, Pentose Phosphate Pathway, chemistry.chemical_compound, SDG 3 - Good Health and Well-being, Internal medicine, Genetics, Medicine, Humans, Genetics(clinical), Neonatal cholestasis, Genetics (clinical), media_common, Arthrogryposis, Cholestasis, business.industry, medicine.disease, Heptoses, Hypoglycemia, Phosphotransferases (Alcohol Group Acceptor), Sedoheptulose, Endocrinology, Phenotype, chemistry, Codon, Nonsense, Child, Preschool, Original Article, Female, Sugar Phosphates, medicine.symptom, business, Sedoheptulokinase, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cc55cba121593e49e4683951db9724
https://doi.org/10.1007/s10545-014-9809-1