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1دورية أكاديمية
المؤلفون: Østergaard, Sofie Thurø, Johnson, Katherine, Stojkovic, Tanya, Krag, Thomas, de Ridder, Willem, de Jonghe, Peter, Baets, Jonathan, Claeys, Kristl, Fernández-Torrón, Roberto, Phillips, Lauren, Topf, Ana, Colomer, Jaume, Nafissi, Shahriar, Jamal-Omidi, Shirin, Bouchet-Seraphin, Celine, Leturcq, France, Macarthur, Daniel, Lek, Monkol, Xu, Liwen, Nelson, Isabelle, Straub, Volker, Vissing, John
المساهمون: University of Copenhagen = Københavns Universitet (UCPH), Newcastle University Newcastle, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Vlaams Instituut voor Biotechnologie Ghent, Belgique (VIB), University of Antwerp (UA), Antwerp University Hospital Edegem (UZA), University Hospitals Leuven Leuven, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), Biodonostia Health Research Institute Donostia-San Sebastian, Spain (IIS Biodonostia), Hospital Sant Joan de Déu Barcelona, Tehran University of Medical Sciences (TUMS), AP-HP - Hôpital Bichat - Claude Bernard Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Cochin AP-HP, Massachusetts General Hospital Boston, Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School Boston (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital Boston, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)
المصدر: ISSN: 0022-3050.
مصطلحات موضوعية: [SDV]Life Sciences [q-bio]
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29175898; hal-03864445; https://hal.science/hal-03864445Test; PUBMED: 29175898
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2دورية أكاديميةExtending the clinical and mutational spectrum of -related myopathies in a non-Hutterite population.
المؤلفون: Johnson, Katherine, De Ridder, Willem, Töpf, Ana, Bertoli, Marta, Phillips, Lauren, De Jonghe, Peter, Baets, Jonathan, Deconinck, Tine, Stojanovic, Vidosava Rakocevic, Perić, Stojan, Durmus, Hacer, Jamal-Omidi, Shirin, Nafissi, Shahriar, Mongini, Tiziana, Łusakowska, Anna, Busby, Mark, Miller, James, Norwood, Fiona, Hudson, Judith, Barresi, Rita
المصدر: Journal of Neurology, Neurosurgery & Psychiatry; Apr2019, Vol. 90 Issue 4, p490-493, 4p
مصطلحات موضوعية: MUSCLE diseases, HIDDEN Markov models
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3دورية أكاديمية
المؤلفون: Østergaard, Sofie Thurø, Johnson, Katherine, Stojkovic, Tanya, Krag, Thomas, De Ridder, Willem, De Jonghe, Peter, Baets, Jonathan, Claeys, Kristl G., Fernández-Torrón, Roberto, Phillips, Lauren, Topf, Ana, Colomer, Jaume, Nafissi, Shahriar, Jamal-Omidi, Shirin, Bouchet-Seraphin, Celine, Leturcq, France, MacArthur, Daniel G., Monkol Lek, Liwen Xu, Nelson, Isabelle
المصدر: Journal of Neurology, Neurosurgery & Psychiatry; May2018, Vol. 89 Issue 5, p506-512, 7p, 1 Illustration
مصطلحات موضوعية: MUSCULAR dystrophy, GENETIC code, GENETIC mutation, NEUROMUSCULAR diseases, MAGNETIC resonance imaging, BIOPSY