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المؤلفون: Moritz Thiel, Daniel Bamborschke, Wibke G. Janzarik, Birgit Assmann, Simone Zittel, Steffi Patzer, Andrea Auhuber, Joachim Opp, Eva Matzker, Andrea Bevot, Juergen Seeger, Andreas van Baalen, Burkhard Stüve, Knut Brockmann, Sebahattin Cirak, Anne Koy
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. :jnnp-2022
مصطلحات موضوعية: Psychiatry and Mental health, Surgery, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dac38d59f018284ae4f5696af6f8f995Test
https://doi.org/10.1136/jnnp-2022-330261Test -
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المؤلفون: Joery P. Molenaar, Gaetano Vattemi, E. Kamsteeg, Benno Küsters, Damien Sternberg, Valeria Guglielmi, Amaia Martínez-Arroyo, K. Suetterlin, Corrie E. Erasmus, Barbara W. Brandom, Juergen Seeger, Susan Treves, Nicol C. Voermans, Thierry Kuntzer, Jérôme Franques, Mark E. Roberts, Roberto Fernández-Torrón, Frédéric Chevessier, Jamie I Verhoeven, Guillaume Bassez, Baziel G.M. van Engelen, Anthony Behin, Lucie Guyant-Maréchal, Richard J. Rodenburg, Savine Vicart, Jean Mathieu, Bruno Eymard, Armelle Magot, Michael G. Hanna, Yann Péréon, M.M.J. Snoeck
المصدر: Brain
Brain, 143, 2, pp. 452-466
Brain, 143, 452-466
Brain, vol. 143, no. 2, pp. 452-466مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Myotonia Congenita, phenotype, genotype, Calcium-Transporting ATPases/genetics, Child, Female, Humans, Muscle, Skeletal/metabolism, Muscle, Skeletal/physiopathology, Muscular Diseases/genetics, Mutation/genetics, Myotonia Congenita/genetics, Phenotype, Sarcoplasmic Reticulum/metabolism, Young Adult, ATP2A1, Brody disease, calcium, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Calcium-Transporting ATPases, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, 0302 clinical medicine, Atrophy, Muscular Diseases, Internal medicine, medicine, Myopathy, Muscle, Skeletal, Muscle contracture, Muscle biopsy, medicine.diagnostic_test, business.industry, Malignant hyperthermia, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Original Articles, Myotonia, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Editor's Choice, Sarcoplasmic Reticulum, 030104 developmental biology, Mutation, Neurology (clinical), medicine.symptom, Contracture, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8aae815c34577eaee53ba8ee9644b0c8Test
http://europepmc.org/articles/PMC7009512Test -
3دورية أكاديمية
المؤلفون: Jürgen, Seeger, Gert, Jacobi, Bernhard, Schmitt
المصدر: Pediatric Research ; volume 28, issue 3, page 302-302 ; ISSN 0031-3998 1530-0447
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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4كتاب إلكتروني
