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المؤلفون: Annechien E.G. Haarman, Caroline C.W. Klaver, Milly S. Tedja, Susanne Roosing, Galuh Astuti, Christian Gilissen, Lies H. Hoefsloot, Marianne van Tienhoven, Tom Brands, Frank J. Magielsen, Bert H.J.F.M.M. Eussen, Annelies de Klein, Erwin Brosens, Virginie J.M. Verhoeven
المساهمون: Ophthalmology, Public Health, Clinical Genetics
المصدر: Ophthalmology science, 3(4):100303
Ophthalmology Science, 3
Ophthalmology Science, 3, 4مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
وصف الملف: application/pdf
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المؤلفون: Maria W A Teunissen, Elly Lewerissa, Eline J H van Hugte, Shan Wang, Charlotte W Ockeloen, David A Koolen, Rolph Pfundt, Carlo L M Marcelis, Eva Brilstra, Jennifer L Howe, Stephen W Scherer, Xavier Le Guillou, Frédéric Bilan, Michelle Primiano, Jasmin Roohi, Amelie Piton, Anne de Saint Martin, Sarah Baer, Simone Seiffert, Konrad Platzer, Rami Abou Jamra, Steffen Syrbe, Jan H Doering, Shenela Lakhani, Srishti Nangia, Christian Gilissen, R Jeroen Vermeulen, Rob P W Rouhl, Han G Brunner, Marjolein H Willemsen, Nael Nadif Kasri
المصدر: Human Molecular Genetics, 32, 14, pp. 2373-2385
مصطلحات موضوعية: Ankyrins/genetics, All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Axon Initial Segment/metabolism, Induced Pluripotent Stem Cells, Genetics, Neurons/metabolism, Humans, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Molecular Biology, Genetics (clinical), Epilepsy/genetics
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd3b86c716e243a79dec03933a9e66
https://cris.maastrichtuniversity.nl/en/publications/9b2ded38-9874-4ce3-8600-ff76505ba30a -
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المؤلفون: Imke M. E. Schuurmans, Bianca Dimitrov, Julian Schröter, Antonia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D. M. van Karnebeek, Stefan Kölker, Alejandro Garanto
المصدر: Journal of Inherited Metabolic Disease, 46, 3, pp. 371-390
Journal of Inherited Metabolic Disease, 46, 371-390مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Linda C. A. Drenthen, Mandala Ajie, Evertine J. Abbink, Laura Rodwell, Dick H. J. Thijssen, Cees J. Tack, Bastiaan E. de Galan
المساهمون: Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome
المصدر: Diabetologia, 66, 1035-1044
Diabetologia, 66(6), 1035-1044. Springer, Cham
Diabetologia, 66, 6, pp. 1035-1044مصطلحات موضوعية: Dose adjustment, POSTEXERCISE, Endocrinology, Diabetes and Metabolism, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Type 1 diabetes mellitus, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], FREQUENCY, IMPAIRED AWARENESS, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], All institutes and research themes of the Radboud University Medical Center, NOCTURNAL HYPOGLYCEMIA, PHYSICAL-ACTIVITY, Insulin treatment, GLARGINE, ADOLESCENTS, Internal Medicine, Hypoglycaemia, Exercise
وصف الملف: application/pdf
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المؤلفون: Lando Janssen, Maria T. E. Hopman, Greetje J. A. Swaans, Neeltje A. E. Allard, Marti Boss, Daphne Lobeek, Martin Gotthardt, Tom J. J. Schirris, Nicole M. A. Blijlevens, Silvie Timmers
المصدر: American Journal of Physiology : Endocrinology and Metabolism, 324, 3, pp. E209-E216
American Journal of Physiology. Endocrinology and Metabolism 324 (2023) 3
American Journal of Physiology. Endocrinology and Metabolism, 324(3), E209-E216
American Journal of Physiology : Endocrinology and Metabolism, 324, E209-E216مصطلحات موضوعية: Physiology, glucose metabolism, Endocrinology, Diabetes and Metabolism, Metabolic Disorders Radboud Institute for Health Sciences [Radboudumc 6], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], All institutes and research themes of the Radboud University Medical Center, chronic myeloid leukemia, Human and Animal Physiology, Physiology (medical), tyrosine kinase inhibitors, Fysiologie van Mens en Dier, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], insulin sensitivity, skeletal muscle, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
وصف الملف: text/html; application/octet-stream
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd98e1129e404b94586442fe33532cfc
https://doi.org/10.1152/ajpendo.00163.2022 -
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المؤلفون: Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperaviciute, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A. Eberle
المصدر: American Journal of Human Genetics, 110, 2, pp. 240-250
American Journal of Human Genetics, 110, 240-250مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a4e76ced7c547831e4136f70e7b7e97
https://doi.org/10.1016/j.ajhg.2023.01.001 -
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المؤلفون: Merel A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito‐Lee, Beom Hee Lee, Karen J. Low, Andrew A. Mallick, Katrin Õunap, James Pitt, William Reardon, Mari‐Anne Vals, Saskia B. Wortmann, Hans J. C. T. Wessels, Melissa Bärenfänger, Clara D. M. van Karnebeek, Dirk J. Lefeber
المصدر: Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg
المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML - MUMC+
المصدر: European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662مصطلحات موضوعية: MICRODUPLICATION, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DELETION, MEDICAL GENETICS, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], DE-NOVO, AMERICAN-COLLEGE, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], DUPLICATION, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], JOINT CONSENSUS RECOMMENDATION, INDIVIDUALS, All institutes and research themes of the Radboud University Medical Center, Genetics, GENOMICS, Genetics (clinical), STANDARDS
وصف الملف: application/pdf
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المؤلفون: Charlotte A. Hoogstraten, Maaike M. E. Jacobs, Guido de Boer, Melissa A. E. van de Wal, Werner J. H. Koopman, Jan A. M. Smeitink, Frans G. M. Russel, Tom J. J. Schirris
المصدر: Archives of Toxicology, 97, 1927-1941
Archives of Toxicology, 97, 7, pp. 1927-1941مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Health, Toxicology and Mutagenesis, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Toxicology
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المؤلفون: Vrieling, F., Stienstra, R.
المصدر: Trends in Immunology, 44, 3, pp. 217-230
Trends in Immunology 44 (2023) 3
Trends in Immunology, 44(3), 217-230
Trends in Immunology, 44, 217-230مصطلحات موضوعية: obesity, Immunology, immunometabolism, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], micronutrient deficiencies, Metabolism and Genomics, macrophages, Voeding, Metabolisme en Genomica, All institutes and research themes of the Radboud University Medical Center, Voeding, Metabolisme en Genomica, Immunology and Allergy, Nutrition, Metabolism and Genomics, Nutrition
وصف الملف: application/pdf; application/octet-stream
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