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1دورية أكاديمية
المؤلفون: Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: McArdle disease, Glycogen storage disease V, Rare diseases, International registry, Health care, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Sevim Erdem Ozdamar, Ayse Filiz Koc, Hacer Durmus Tekce, Dilcan Kotan, Ahmet Hakan Ekmekci, Ihsan Sukru Sengun, Ayse Nur Yuceyar, Kayihan Uluc
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: late-onset Pompe disease, diagnostic delay, diagnostic algorithm, index of suspicion, treatment, outcome, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1095134/fullTest; https://doaj.org/toc/1664-2295Test
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3دورية أكاديمية
المؤلفون: Merve Çebi, Hacer Durmus, Fikret Aysal, Berker Özkan, Gizem Engin Gül, Arman Çakar, Mehmet Hocaoglu, Metin Mercan, Sibel P. Yentür, Melih Tütüncü, Vildan Yayla, Onur Akan, Öner Dogan, Yeşim Parman, Güher Saruhan-Direskeneli
المصدر: Frontiers in Immunology, Vol 11 (2020)
مصطلحات موضوعية: T follicular helper cells, PD-1, ICOS, IL-21, IL-4, IL-17, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fimmu.2020.00809/fullTest; https://doaj.org/toc/1664-3224Test
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4دورية أكاديمية
المؤلفون: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer, Kristl G. Claeys, Willem De Ridder, Jonathan Baets, Maja von der Hagen, Roberto Fernández-Torrón, Miren Zulaica Ijurco, Juan Bautista Espinal Valencia, Andreas Hahn, Hacer Durmus, Tracey Willis, Liwen Xu, Elise Valkanas, Thomas E. Mullen, Monkol Lek, Daniel G. MacArthur, Volker Straub
المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Whole-exome sequencing, Dystroglycanopathies, Limb-girdle muscle weakness, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13395-018-0170-1Test; https://doaj.org/toc/2044-5040Test
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5دورية أكاديمية
المؤلفون: Magdalena Mroczek, Hacer Durmus, Ana Töpf, Yesim Parman, Volker Straub
المصدر: Genes, Vol 11, Iss 7, p 716 (2020)
مصطلحات موضوعية: plectin, PLEC, myasthenia, limb-girdle muscular dystrophy, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Vuslat Yilmaz, Piraye Oflazer, Fikret Aysal, Hacer Durmus, Kostas Poulas, Sibel P Yentur, Yesim Gulsen-Parman, Socrates Tzartos, Alexander Marx, Erdem Tuzun, Feza Deymeer, Güher Saruhan-Direskeneli
المصدر: PLoS ONE, Vol 10, Iss 4, p e0123546 (2015)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1932-6203Test
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7دورية أكاديمية
المؤلفون: Aylin Pıhtılı, Esen Kıyan, Hacer Durmuş, Yeşim Parman, Züleyha Bingol
المصدر: Internal Medicine. 2016, 55(13):1783
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8دورية أكاديمية
المؤلفون: Koc, Ayse Filiz, Özdamar, Sevim Erdem, Tekce, Hacer Durmus, Kotan, Dilcan, Ekmekci, Ahmet Hakan, Şengün, İhsan Şükrü, Yuceyar, Ayşe Nur
مصطلحات موضوعية: diagnostic delay, late-onset Pompe disease, diagnostic algorithm, index of suspicion, treatment, outcome, Enzyme Replacement Therapy, Natural Course, Consensus, Phenotype
العلاقة: Frontiers in Neurology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/90916Test; https://doi.org/10.3389/fneur.2023.1095134Test; 14
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9دورية أكاديمية
المؤلفون: Özdamar, Sevim Erdem, Koc, Ayse Filiz, Tekce, Hacer Durmus, Kotan, Dilcan, Ekmekci, Ahmet Hakan, Şengün, İhsan Şükrü, Yuceyar, Ayşe Nur
مصطلحات موضوعية: late-onset Pompe disease, diagnostic delay, diagnostic algorithm, index of suspicion, treatment, outcome, Enzyme Replacement Therapy, Natural Course, Consensus, Phenotype
العلاقة: Frontiers in Neurology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3389/fneur.2023.1095134Test; https://hdl.handle.net/11454/87165Test; 14; WOS:000997720400001; 2-s2.0-85161049382
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10دورية أكاديمية
المؤلفون: Barbara Elsnicova, Daniela Hornikova, Veronika Tibenska, David Kolar, Tereza Tlapakova, Benjamin Schmid, Markus Mallek, Britta Eggers, Ursula Schlötzer-Schrehardt, Viktoriya Peeva, Carolin Berwanger, Bettina Eberhard, Hacer Durmuş, Dorothea Schultheis, Christian Holtzhausen, Karin Schork, Katrin Marcus, Jens Jordan, Thomas Lücke, Peter F. M. van der Ven, Rolf Schröder, Christoph S. Clemen, Jitka M. Zurmanova
المصدر: International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 12020
مصطلحات موضوعية: desmin, desminopathy, cardiomyopathy, mitochondriopathy, desmin knock-out metabolism, glucose, fatty acid, amino acid, creatine kinase, mitochondria
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms231912020Test