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1دورية أكاديمية
المؤلفون: Mattijs E Numans, Michiel L Bots, Sytske van Bruggen, Hedwig M M Vos, Rimke C Vos, Guy Rutten, Saskia E van Grondelle, Judith Meijer, Erik van Duin
المصدر: BMJ Open, Vol 12, Iss 7 (2022)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Marie-Christine Etienne-Grimaldi, Jean-Christophe Boyer, Christophe Beroud, Litaty Mbatchi, André van Kuilenburg, Christine Bobin-Dubigeon, Fabienne Thomas, Etienne Chatelut, Jean-Louis Merlin, Frédéric Pinguet, Christophe Ferrand, Judith Meijer, Alexandre Evrard, Laurence Llorca, Gilles Romieu, Philippe Follana, Thomas Bachelot, Loic Chaigneau, Xavier Pivot, Véronique Dieras, Rémy Largillier, Mireille Mousseau, Anthony Goncalves, Henri Roché, Jacques Bonneterre, Véronique Servent, Nadine Dohollou, Yann Château, Emmanuel Chamorey, Jean-Pierre Desvignes, David Salgado, Jean-Marc Ferrero, Gérard Milano
المصدر: PLoS ONE, Vol 12, Iss 5, p e0175998 (2017)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Yoko Nakajima, Judith Meijer, Chunhua Zhang, Xu Wang, Tomomi Kondo, Tetsuya Ito, Doreen Dobritzsch, André B. P. Van Kuilenburg
المصدر: International Journal of Molecular Sciences, Vol 17, Iss 1, p 86 (2016)
مصطلحات موضوعية: dihydropyrimidinase, DPYS, splicing, minigene, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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المؤلفون: Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A. Monavari, Anders Gummesson, Annika Reims, Jorge A. Cayuela, Natalia Kuklina, Jean-François Benoist, Laurence Perrin, Birgit Assmann, Georg F. Hoffmann, Jörgen Bierau, Angela M. Kaindl, André B.P. van Kuilenburg
المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Clinical Genetics, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Molecular genetics and metabolism, 136(3), 177-185. Academic Press Inc.
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press Inc.مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Endocrinology, Diabetes and Metabolism, beta-Ureidopropionase, Minigene approach, Biochemistry, AMINOISOBUTYRIC ACID, Amidohydrolases, MECHANISMS, Neurological abnormalities, Endocrinology, SDG 3 - Good Health and Well-being, GENETIC-ANALYSIS, Genetics, RNA Precursors, Animals, Humans, Abnormalities, Multiple, CRYSTAL-STRUCTURE, WHITE FAT, HOMOCARNOSINE, Molecular Biology, Medicinsk genetik, Functional and structural protein analysis, Mammals, Brain Diseases, Movement Disorders, PURIFICATION, Crystal structure, UPB1, DIHYDROPYRIMIDINE DEHYDROGENASE, ALANINE SYNTHASE, Mutation, beta-Alanine, CARNOSINE, Medical Genetics, ß-Ureidopropionase
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Herman A. van Wietmarschen, Sjef Staps, Judith Meijer, J. Francisca Flinterman, Miek C. Jong
المصدر: MDPI, IJERPH. 19(4):1-18
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المؤلفون: Saskia E van Grondelle, Sytske van Bruggen, Judith Meijer, Erik van Duin, Michiel L Bots, Guy Rutten, Hedwig M M Vos, Mattijs E Numans, Rimke C Vos
المصدر: BMJ Open, 12(7). BMJ PUBLISHING GROUP
مصطلحات موضوعية: primary care, hypertension, Humans, Patient Compliance, General Medicine, Pharmacists, qualitative research, Netherlands
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3121baee3e8f7fd6f51766bb9e354dc8
https://hdl.handle.net/1887/3480095 -
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المؤلفون: Sanja Kezic, Maeve A. McAleer, Ivone Jakasa, Susan M.I. Goorden, Karen Ghauharali‐van der Vlugt, Femke S. Beers‐Stet, Judith Meijer, Jeroen Roelofsen, Monique M. Nieman, André B.P. van Kuilenburg, Alan D. Irvine
المساهمون: Public and occupational health, APH - Societal Participation & Health, APH - Personalized Medicine, AII - Inflammatory diseases, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: British journal of dermatology, 186(6), 988-996. Wiley-Blackwell
مصطلحات موضوعية: ceramides, GBA, stratum corneum, atopic dermatitis, Inflammation, Cytokines, Glucosylceramidase, Humans, Infant, Water, Dermatology, Ceramides, Child, Biomarkers, Dermatitis, Atopic, Skin
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdce4c26db20388f3627290fe6472ba2
https://pure.amc.nl/en/publications/children-with-atopic-dermatitis-show-increased-activity-of-glucocerebrosidase-and-stratum-corneum-levels-of-glucosylcholesterol-that-are-strongly-related-to-the-local-cytokine-milieu(08fb36be-8893-4458-a5a1-cc09b2f0fd5f).html -
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المؤلفون: Farhad Karbassi, Joke J.F.A. van Vugt, Daman Kumari, Doreen Dobritzsch, Britt I. Drögemöller, Michael A. Eberle, Clara D. M. van Karnebeek, Maja Tarailo-Graovac, Brett Trost, Ronald J. A. Wanders, Saikat Santra, Michel van Weeghel, Youdong Wang, Wyeth W. Wasserman, Marjolein Turkenburg, Xiao-Yan Wen, Andre B. P. van Kuilenburg, Meaghan J Jones, Jagdeep S. Walia, Koroboshka Brand-Arzamendi, Rene Leen, Julia L Macisaac, Hans R. Waterham, Laura A. Tseng, Michael S. Kobor, Charlotte Nguyen, Karen Usdin, Janet Koster, Indhu-Shree Rajan-Babu, Xiaohong Xu, Bernice Sim, Jinqiu Zhang, Jan H. Veldink, Meng Li, Egor Dolzhenko, Ryan K. C. Yuen, Stephen W. Scherer, Cassandra L. McDonald, Judith Meijer, Phillip A. Richmond, Bruce E. Hayward, C. J. Ross, Galen E.B. Wright, Mahmoud A. Pouladi, Michael T. Geraghty
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Oncogenomics, ARD - Amsterdam Reproduction and Development, APH - Methodology, Paediatric Metabolic Diseases, ACS - Diabetes & metabolism, Laboratory Medicine, Pediatric surgery
المصدر: New England journal of medicine, 380(15), 1433-1441. Massachussetts Medical Society
New England Journal of Medicine, 380(15), 1433-1441. Massachussetts Medical Society
van Kuilenburg, A B P, Tarailo-Graovac, M, Richmond, P A, Drögemöller, B I, Pouladi, M A, Leen, R, Brand-Arzamendi, K, Dobritzsch, D, Dolzhenko, E, Eberle, M A, Hayward, B, Jones, M J, Karbassi, F, Kobor, M S, Koster, J, Kumari, D, Li, M, MacIsaac, J, McDonald, C, Meijer, J, Nguyen, C, Rajan-Babu, I S, Scherer, S W, Sim, B, Trost, B, Tseng, L A, Turkenburg, M, van Vugt, J J F A, Veldink, J H, Walia, J S, Wang, Y, van Weeghel, M, Wright, G E B, Xu, X, Yuen, R K C, Zhang, J, Ross, C J, Wasserman, W W, Geraghty, M T, Santra, S, Wanders, R J A, Wen, X Y, Waterham, H R, Usdin, K & van Karnebeek, C D M 2019, ' Glutaminase deficiency caused by short tandem repeat expansion in GLS ', New England Journal of Medicine, vol. 380, no. 15, pp. 1433-1441 . https://doi.org/10.1056/NEJMoa1806627
N Engl J Medمصطلحات موضوعية: Untranslated region, Male, Ataxia, Genotype, Developmental Disabilities, Glutamine, 030204 cardiovascular system & hematology, Polymerase Chain Reaction, Article, 03 medical and health sciences, 0302 clinical medicine, Glutaminase, Cerebellum, medicine, Humans, 030212 general & internal medicine, Allele, Gene, Amino Acid Metabolism, Inborn Errors, Exome sequencing, Genetics, Whole genome sequencing, Whole Genome Sequencing, business.industry, General Medicine, medicine.disease, Phenotype, Inborn error of metabolism, Child, Preschool, Mutation, Female, medicine.symptom, Atrophy, business, Microsatellite Repeats
وصف الملف: application/pdf
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المؤلفون: Linda M, Henricks, Ester J M, Siemerink, Hilde, Rosing, Judith, Meijer, Susan M I, Goorden, Abeltje M, Polstra, Lida, Zoetekouw, Annemieke, Cats, Jan H M, Schellens, André B P, van Kuilenburg
المصدر: International Journal of Cancer. 142(2):424-430
مصطلحات موضوعية: Antimetabolites, Antineoplastic, Dihydropyrimidine Dehydrogenase Deficiency, Genotype, Humans, Female, Genetic Testing, Middle Aged, Prognosis, Capecitabine, Dihydrouracil Dehydrogenase (NADP)
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المؤلفون: Maja Tarailo-Graovac, André B.P. van Kuilenburg, Colin Jd Ross, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Clara D.M. van Karnebeek, Wyeth W. Wasserman, Britt I. Drögemöller, Lida Zoetekouw, Dirk Maurer, Jerry Vockley
المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatric Metabolic Diseases
المصدر: Human mutation, 39(7), 947-953. Wiley-Liss Inc.
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Adolescent, Dihydropyrimidine Dehydrogenase Deficiency, Genotype, Mutation, Missense, Biology, Compound heterozygosity, Loss of heterozygosity, 03 medical and health sciences, symbols.namesake, Dihydropyrimidine dehydrogenase deficiency, Genetics, medicine, Humans, Missense mutation, Exome, Dihydrouracil Dehydrogenase (NADP), Genetics (clinical), Sequence Deletion, Sanger sequencing, Whole genome sequencing, Whole Genome Sequencing, Chromosome Mapping, Infant, Exons, medicine.disease, Introns, Phenotype, 030104 developmental biology, Child, Preschool, Paraparesis, Spastic, symbols, Female, DPYD