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1دورية أكاديمية
المؤلفون: Hannah F. Dugdale, Yotam Levy, Heinz Jungbluth, Anders Oldfors, Julien Ochala
المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-11 (2024)
مصطلحات موضوعية: MYMK gene, Myomaker, Skeletal muscle, Myonuclear domain, Single myofiber, Carey-Fineman-Ziter Syndrome, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2051-5960Test
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2دورية أكاديمية
المؤلفون: Delnaz Roshandel, Eric J. Sanders, Amy Shakeshaft, Naim Panjwani, Fan Lin, Amber Collingwood, Anna Hall, Katherine Keenan, Celine Deneubourg, Filippo Mirabella, Simon Topp, Jana Zarubova, Rhys H. Thomas, Inga Talvik, Marte Syvertsen, Pasquale Striano, Anna B. Smith, Kaja K. Selmer, Guido Rubboli, Alessandro Orsini, Ching Ching Ng, Rikke S. Møller, Kheng Seang Lim, Khalid Hamandi, David A. Greenberg, Joanna Gesche, Elena Gardella, Choong Yi Fong, Christoph P. Beier, Danielle M. Andrade, Heinz Jungbluth, Mark P. Richardson, Annalisa Pastore, Manolis Fanto, Deb K. Pal, Lisa J. Strug, the BIOJUME Consortium
المصدر: npj Genomic Medicine, Vol 8, Iss 1, Pp 1-11 (2023)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2056-7944Test
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3دورية أكاديمية
المؤلفون: Paul Gringras, Heinz Jungbluth, Thomas Rossor, Thomas Maycock, Maria Vanegas
المصدر: BMJ Open Respiratory Research, Vol 10, Iss Suppl 1 (2023)
مصطلحات موضوعية: Medicine, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2052-4439Test
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4دورية أكاديمية
المؤلفون: Fulvio Reggiori, Patricia Boya, David da Costa, Zvulun Elazar, Eeva-Liisa Eskelinen, Judith Farrés, Sebastian Guettler, Claudine Kraft, Heinz Jungbluth, Ana Martinez, Etienne Morel, Ole Pless, Tassula Proikas-Cezanne, Anne Simonsen
المصدر: Autophagy Reports, Vol 1, Iss 1, Pp 414-417 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2769-4127Test
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5دورية أكاديمية
المؤلفون: Lea Hentrich, Mered Parnes, Timothy Edward Lotze, Rohini Coorg, Tom J. de Koning, Kha M. Nguyen, Calvin K. Yip, Heinz Jungbluth, Anne Koy, Hormos Salimi Dafsari
المصدر: Genes, Vol 14, Iss 10, p 1860 (2023)
مصطلحات موضوعية: GOSR2, North Sea progressive myoclonus epilepsy, vesicular trafficking, dystonia, clonazepam, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Jacob A. Ross, Hichem Tasfaout, Yotam Levy, Jennifer Morgan, Belinda S. Cowling, Jocelyn Laporte, Edmar Zanoteli, Norma B. Romero, Dawn A. Lowe, Heinz Jungbluth, Michael W. Lawlor, David L. Mack, Julien Ochala
المصدر: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
مصطلحات موضوعية: Skeletal muscle, Congenital myopathy, Myotubularin, Myonuclear domain, Myofilament, Force production, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s40478-020-01048-8Test; https://doaj.org/toc/2051-5960Test
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7دورية أكاديمية
المؤلفون: Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Ursula Knirsch, Georg M Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Alan Lehmann
مصطلحات موضوعية: Biomedical and clinical sciences, Neurosciences, Paediatrics, Cockayne syndrome, DNA repair, MORC2, Microcephaly, Humans, DNA Repair Enzymes, Phenotype, Mutation, Transcription Factors, 3213 Paediatrics, 32 Biomedical and Clinical Sciences, 3209 Neurosciences, Pediatric, Charcot-Marie-Tooth Disease, Clinical Research, Rare Diseases, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Genetics, Peripheral Neuropathy, Neurodegenerative, 2.1 Biological and endogenous factors, 2 Aetiology, 1109 Neurosciences, 1114 Paediatrics and Reproductive Medicine, Neurology & Neurosurgery
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8
المؤلفون: Luuk R. van den Bersselaar, Nens van Alfen, Nick Kruijt, Erik-Jan Kamsteeg, Miguel A. Fernandez-Garcia, Susan Treves, Sheila Riazi, Chu-Ya Yang, Ignacio Malagon, Lucas T. van Eijk, Baziel G.M. van Engelen, Gert-Jan Scheffer, Heinz Jungbluth, Marc M.J. Snoeck, Nicol C. Voermans
المصدر: Journal of Neuromuscular Diseases. :1-14
مصطلحات موضوعية: Neurology, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c779ebf0005654c3a7cbabdbb3d52cdTest
https://doi.org/10.3233/jnd-230018Test -
9
المؤلفون: Sithara Ramdas, Ryan Malcolm Hum, Abigail Price, Anna Paul, Jeremy Bland, Georgina Burke, Maria Farrugia, Jacqueline Palace, Alice Storrie, Pauline Ho, Emma Standing, James B. Lilleker, Heinz Jungbluth
المصدر: Neuromuscular Disorders. 32:785-789
مصطلحات موضوعية: COVID-19 Vaccines, Neurology, SARS-CoV-2, Myasthenia Gravis, Vaccination, Pediatrics, Perinatology and Child Health, Humans, COVID-19, Neurology (clinical), Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b0beedd10fb97556b73c7420e157b0Test
https://doi.org/10.1016/j.nmd.2022.09.001Test -
10
المؤلفون: Nicholas M Allen, Mark O’Rahelly, Bruno Eymard, Mondher Chouchane, Andreas Hahn, Gerry Kearns, Dae-Seong Kim, Shin Yun Byun, Cam-Tu Emilie Nguyen, Ulrike Schara-Schmidt, Heike Kölbel, Adela Della Marina, Christiane Schneider-Gold, Kathryn Roefke, Andrea Thieme, Peter Van den Bergh, Gloria Avalos, Rodrigo Álvarez-Velasco, Daniel Natera-de Benito, Man Hin Mark Cheng, Wing Ki Chan, Hoi Shan Wan, Mary Ann Thomas, Lauren Borch, Julie Lauzon, Cornelia Kornblum, Jens Reimann, Andreas Mueller, Thierry Kuntzer, Fiona Norwood, Sithara Ramdas, Leslie W Jacobson, Xiaobo Jie, Miguel A Fernandez-Garcia, Elizabeth Wraige, Ming Lim, Jean Pierre Lin, Kristl G Claeys, Selma Aktas, Maryam Oskoui, Yael Hacohen, Ameneh Masud, M Isabel Leite, Jacqueline Palace, Darryl De Vivo, Angela Vincent, Heinz Jungbluth
المصدر: Brain.
مصطلحات موضوعية: Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::34284e62cb5632e5fa3d1b50598045ebTest
https://doi.org/10.1093/brain/awad153Test