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1دورية أكاديمية
المؤلفون: Daphne H. Schoenmakers, Fanny Mochel, Laura A. Adang, Jaap-Jan Boelens, Valeria Calbi, Erik A. Eklund, Sabine W. Grønborg, Francesca Fumagalli, Samuel Groeschel, Caroline Lindemans, Caroline Sevin, Ludger Schöls, Dipak Ram, Ayelet Zerem, Holm Graessner, Nicole I. Wolf
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Leukodystrophy, Metachromatic, Hematopoietic stem cell transplantation, Rare diseases, Europe, Healthcare disparities, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2
المؤلفون: C. Painous, Holm Graessner, N.J.H. van Os, Marina A. J. Tijssen, Wassilios G. Meissner, B.P.C. van de Warrenburg, Anna Delamarre, I. Michailoviene, María-José Martí, Carola Reinhard, Algirdas Utkus
المساهمون: Movement Disorder (MD)
المصدر: European Journal of Neurology, 27(8), 1493-1500. Wiley
European journal of neurology, Hoboken : Wiley, 2020, first published online, p. [1-8]
European Journal of Neurology, 27, 8, pp. 1493-1500
European Journal of Neurology, 27, 1493-1500
European journal of neurology, Hoboken : Wiley, 2020, vol. 27, iss. 8, p. 1493-1500
European Journal of Neurologyمصطلحات موضوعية: medicine.medical_specialty, Movement disorders, Neurodegeneration with brain iron accumulation, Disease, 03 medical and health sciences, 0302 clinical medicine, Central Nervous System Diseases, Surveys and Questionnaires, Humans, Medicine, media_common.cataloged_instance, survey, European Union, 030212 general & internal medicine, Disease management (health), European union, Genetic testing, media_common, Dystonia, disease management, Europe, movement disorders, rare diseases, medicine.diagnostic_test, business.industry, Paroxysmal dyskinesia, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Europe, Cross-Sectional Studies, Neurology, Dystonic Disorders, Family medicine, movement disorders, Original Article, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a7183394d29aa78a710987fe66dcc9aTest
https://doi.org/10.1111/ene.14302Test -
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المؤلفون: Birte Zurek, Alexander Hoischen, Holm Graessner, Sergi Beltran
المصدر: European Journal of Human Genetics, 29, 1319-1320
European journal of human genetics, 29(9):13191320
European Journal of Human Genetics
European Journal of Human Genetics, 29, 9, pp. 1319-1320مصطلحات موضوعية: 2019-20 coronavirus outbreak, Cytogenetics, Gene Expression, Biomedicine, general, Bioinformatics, Human Genetics, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Genetic Diseases, Inborn, Virology, Europe, Editorial, Rare Diseases, Genetics, Medicine, Humans, Genetic Testing, business, Genetics (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2327bef3153d4cbcd73f1380120c52Test
http://hdl.handle.net/2066/237906Test