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1دورية أكاديمية
المؤلفون: Heul,van der, Marise, Overig, Cuppen, Inge, Overig, Wadman, Renske, Overig, Asselman, Fay-Lynn, Overig, Schoenmakers, Marja, Overig, Woude,van der, Danny, Overig, Gerrits, Ellen, Lector, Pol,van der, Ludo, Overig, Engel-Hoek,van den, Lenie, Overig
المساهمون: Kenniscentrum Gezond en Duurzaam Leven, Hogeschool Utrecht, Logopedie Participatie door Communicatie, Hogeschool Utrecht@@@Kenniscentrum Gezond en Duurzaam Leven
المصدر: Journal of Neuromuscular Diseases. 7(3):323-330
مصطلحات موضوعية: spinal muscular atrophy, hypotonia, dysphagia, aspiration
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2دورية أكاديمية
المؤلفون: van der Woude, Danny R, Wadman, Renske I, Asselman, Fay-Lynn, Schoenmakers, Marja A G C, Cuppen, Inge, van der Pol, W Ludo, Bartels, Bart
المساهمون: Kinderbewegingszorg patientenzorg, Neurologen, Brain, Verpleegkundig Specialisten
مصطلحات موضوعية: HFMSE, Motor function, Nusinersen, Spinal muscular atrophy, Treatment, Clinical Neurology, Neurology, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Journal Article
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Otto, Louise A.M., Froeling, M., Van Eijk, Ruben P.A., Wadman, Renske I., Cuppen, Inge, Van Der Woude, Danny R., Bartels, Bart, Asselman, Fay Lynn, Hendrikse, Jeroen, Van Der Pol, W. Ludo
المساهمون: Projectafdeling ALS, Precision Imaging Group, Brain, Cancer, Circulatory Health, Highfield Research Group, Datamanagement Team 1, Neurologen, Kinderbewegingszorg patientenzorg, Verpleegkundig Specialisten, Divisie Beeld & Oncologie
مصطلحات موضوعية: diffusion tensor imaging, magnetic resonance imaging, Muscular atrophy, spinal, therapeutics, Neurology, Clinical Neurology
وصف الملف: application/pdf
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4دورية أكاديمية
المؤلفون: Ros, Leandra A.A., Goedee, H. Stephan, Franssen, Hessel, Asselman, Fay Lynn, Bartels, Bart, Cuppen, Inge, van Eijk, Ruben P.A., Sleutjes, Boudewijn T.H.M., van der Pol, W. Ludo, Wadman, Renske I.
المساهمون: Projectafdeling SvS, Neurologen, Onderzoek NEU, Verpleegkundig Specialisten, Kinderbewegingszorg patientenzorg, Datamanagement Team 1, Projectafdeling ALS, Brain
مصطلحات موضوعية: Electrophysiological techniques, Motor unit, Nusinersen, Risdiplam, Spinal muscular atrophy, Clinical Neurology, Journal Article
وصف الملف: application/pdf
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5دورية أكاديمية
المؤلفون: Veldhoen, Esther S, Wijngaarde, Camiel A, van Eijk, Ruben P A, Asselman, Fay-Lynn, Seddiqi, Negina, Otto, Louise A M, Stam, Marloes, Cuppen, Inge, Wadman, Renske I, van Asperen, Roelie M Wösten, Hulzebos, Erik H J, van den Oudenrijn, Laura P Verweij, Bartels, Bart, Boezer, Jasmijn, Gaytant, M, van der Ent, Cornelis K, van der Pol, W Ludo
المساهمون: Child Health, Intensive care patientenzorg, Arts-assistenten Kinderen, Brain, Projectafdeling ALS, Verpleegkundig Specialisten, Neurologen, Activity&Health sectie exercise, Kinderbewegingszorg patientenzorg, Longziekten, Other research (not in main researchprogram), Longziekten patientenzorg, Speerpunt Child Health, Infection & Immunity
مصطلحات موضوعية: Lung function, Natural history, Neuromuscular, Respiratory failure, Spinal muscular atrophy, Journal Article
وصف الملف: application/pdf
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6دورية أكاديمية
المؤلفون: Stam, Marloes, Wijngaarde, Camiel A., Bartels, Bart, Asselman, Fay Lynn, Otto, Louise A.M., Habets, Laura E., Van Eijk, Ruben P.A., Middelkoop, Bas M., Goedee, H. Stephan, De Groot, Janke F., Roes, Kit C.B., Schoenmakers, Marja A.G.C., Nieuwenhuis, Edward E.S., Cuppen, Inge, Van Den Berg, Leonard H., Wadman, Renske I., Van Der Pol, W. Ludo
المساهمون: Projectafdeling ALS, Arts-assistenten Kinderen, Brain, Kinderbewegingszorg patientenzorg, Verpleegkundig Specialisten, Activity&Health sectie child development, Datamanagement Team 1, Neurologen, Biostatistiek Onderzoek, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells
مصطلحات موضوعية: SMA, cross-over, placebo, pyridostigmine, spinal muscular atrophy, Psychiatry and Mental health, Biological Psychiatry, Cellular and Molecular Neuroscience, Neurology, Journal Article
وصف الملف: application/pdf
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7دورية أكاديمية
المؤلفون: Ros, Leandra A. A., Goedee, H. Stephan, Franssen, Hessel, Asselman, Fay-Lynn, Bartels, Bart, Cuppen, Inge, van Eijk, Ruben P. A., Sleutjes, Boudewijn T. H. M., van der Pol, W. Ludo, Wadman, Renske I.
المساهمون: Stichting Spieren voor Spieren, Prinses Beatrix Spierfonds
المصدر: BMC Neurology ; volume 23, issue 1 ; ISSN 1471-2377
مصطلحات موضوعية: Neurology (clinical), General Medicine
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8دورية أكاديمية
المؤلفون: Veldhoen, Esther S., Wijngaarde, Camiel A., van Eijk, Ruben P. A., Asselman, Fay-Lynn, Seddiqi, Negina, Otto, Louise A. M., Stam, Marloes, Cuppen, Inge, Wadman, Renske I., van Asperen, Roelie M. Wösten, Hulzebos, Erik H. J., van den Oudenrijn, Laura P. Verweij, Bartels, Bart, Boezer, Jasmijn, Gaytant, M., van der Ent, Cornelis K., van der Pol, W. Ludo
المساهمون: Prinses Beatrix Spierfonds
المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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9دورية أكاديمية
المؤلفون: Zou, Fanggeng, McWalter, Kirsty, Schmidt, Lindsay, Decker, Amy, Picker, Jonathan D, Lincoln, Sharyn, Sweetser, David A, Briere, Lauren C, Harini, Chellamani, Network, Members of the Undiagnosed Diseases, Marsh, Eric, Medne, Livija, Wang, Raymond Y, Leydiker, Karen, Mower, Andrew, Visser, Gepke, Cuppen, Inge, van Gassen, Koen L, van der Smagt, Jasper, Yousaf, Adeel, Tennison, Michael, Shanmugham, Anita, Butler, Elizabeth, Richard, Gabriele, McKnight, Dianalee
المصدر: Journal of Neurogenetics. 31(1-2)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Epilepsy, Neurodegenerative, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adolescent, Child, Female, Humans, Infant, Intellectual Disability, Male, Motor Disorders, Movement Disorders, Muscle Hypotonia, Mutation, Missense, Pedigree, Phenotype, Receptors, GABA-A, Severity of Illness Index, Speech Disorders, genetics, seizures, GABRG2, phenotype, missense, Members of the Undiagnosed Diseases Network, Clinical Sciences, Neurology & Neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/50g19653Test
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10دورية أكاديمية
المؤلفون: Baranello, Giovanni, Roy, Susana Quijano, Servais, Laurent, Munell, Francina, Molinero, Mireia Alvarez, Natera de Benito, Daniel, Nascimento, Andres, Gomez-Andres, David, Comellas, Laura Costa, Exposito, Jessica, Tizzano, Eduardo F., Cuppen, Inge, Van der Pol, Ludo, Aleman, Alberto, Lochmuller, Hanns, McMillan, Hugh, Kirschner, Janbernd, Müller, Cornelia, Oskoui, Maryam, Masson, Riccardo, Bruno, Claudio, Gonorazky, Hernan D., Tesi-Rocha, Carolina, Yaworski, Amanda Marie, Zanoteli, Edmar, Mendonca, Rodrigo, D'Amico, Adele, Cumbo, Francesca, Tosi, Michele, Pane, Marika, Mercuri, Eugenio, Nardes, Flavia, Prufer, Alexandra, Arci, Brenda Klemm, Pascual, Samuel Ignacio, Fattal-Valevski, Aviva, De Waele, Liesbeth, Deconinck, Nicolas, Farrar, Michelle, Haberlova, Jana, Gomez-Garcia de la Banda, Marta, Childs, Anne-Marie, Martos, Cristina, Wraige, Elizabeth, Gowda, Vasantha, Illingworth, Marjorie, Ong, Min, Majundar, Anirban, Hughes, Imelda, Torne, Krupa
المصدر: European Journal of Paediatric Neurology ; volume 48, page 67-68 ; ISSN 1090-3798
مصطلحات موضوعية: Neurology (clinical), General Medicine, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.ejpn.2023.11.006Test
https://api.elsevier.com/content/article/PII:S109037982300168X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S109037982300168X?httpAccept=text/plainTest
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