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1دورية أكاديمية
المؤلفون: Claudia Fuchs, Peter A. C. ‘t Hoen, Annelieke R. Müller, Friederike Ehrhart, Clara D. M. Van Karnebeek
المصدر: Frontiers in Medicine, Vol 11 (2024)
مصطلحات موضوعية: Rett syndrome, CDKL5 deficiency disorder, FOXG1-syndrome, shared molecular pathways, common drug targets, drug repurposing, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W. ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
المصدر: BMC Medicine, Vol 21, Iss 1, Pp 1-15 (2023)
مصطلحات موضوعية: Tuberous sclerosis complex, Patient-reported outcome measure, Functioning, Quality of life, Intellectual disability, Adults, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1741-7015
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3دورية أكاديمية
المؤلفون: Annelieke R. Müller, Michiel A. J. Luijten, Lotte Haverman, Wendela L. de Ranitz-Greven, Peter Janssens, André B. Rietman, Leontine W.ten Hoopen, Laura C. G. de Graaff, Marie-Claire de Wit, Anna C. Jansen, Tanjala Gipson, Jamie K. Capal, Petrus J. de Vries, Agnies M. van Eeghen
المصدر: BMC Medicine, Vol 21, Iss 1, Pp 1-1 (2023)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1741-7015
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المؤلفون: Marion M.M.G. Brands, Annelieke R. Müller, Joost G. Daams, Agnies M. van Eeghen, Clara D.M. van Karnebeek, Frits A. Wijburg, Peter M. van de Ven, Martina C. Cornel, Erik Boot, Kit C.B. Roes
المساهمون: ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, ARD - Amsterdam Reproduction and Development, Paediatric Genetics, APH - Personalized Medicine, APH - Aging & Later Life
المصدر: Neurology, 96, 529-540
Neurology, 96(11), 529-540. Lippincott Williams and Wilkins
Müller, A R, Brands, M M, van de Ven, P M, Roes, K C, Cornel, M C, van Karnebeek, C D, Wijburg, F A, Daams, J G, Boot, E & van Eeghen, A M 2021, ' Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders : The Power of 1 ', Neurology, vol. 96, no. 11, pp. 529-540 . https://doi.org/10.1212/WNL.0000000000011597
Neurology, 96, 11, pp. 529-540مصطلحات موضوعية: N of 1 trial, medicine.medical_specialty, Psychological intervention, MEDLINE, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, medicine, Humans, Genetic Predisposition to Disease, Generalizability theory, 030212 general & internal medicine, Intensive care medicine, Randomized Controlled Trials as Topic, Protocol (science), business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Critical appraisal, Systematic review, Neurodevelopmental Disorders, Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314a6f24bd1ae057d955fbc731462e6f
http://www.scopus.com/inward/record.url?scp=85102964228&partnerID=8YFLogxK -
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المؤلفون: Emma N.M.M. von Scheibler, Agnies M. van Eeghen, Tom J. de Koning, Mark L. Kuijf, Janneke R. Zinkstok, Annelieke R. Müller, Thérèse A.M.J. van Amelsvoort, Erik Boot
المصدر: von Scheibler, E N M M, van Eeghen, A M, de Koning, T J, Kuijf, M L, Zinkstok, J R, Müller, A R, van Amelsvoort, T A M J & Boot, E 2022, ' Parkinsonism in Genetic Neurodevelopmental Disorders : A Systematic Review ', Movement Disorders Clinical Practice . https://doi.org/10.1002/mdc3.13577
مصطلحات موضوعية: PARTIAL TRISOMY, INTELLECTUAL DISABILITY, MUTATIONS, Parkinson's disease, ADULTS, neurodevelopmental disorder, PROGRESSIVE PARKINSONISM, DISEASE, DEFICIENCY, PROTEIN-ASSOCIATED NEURODEGENERATION, Neurology, Neurology (clinical), DOWN-SYNDROME, genetic, parkinsonism, MOVEMENT-DISORDERS
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1915b6ab1565059b111b07d9c9153226
https://research.vumc.nl/en/publications/b276499d-da15-4bd3-8973-bc52eceef139
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