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المؤلفون: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken
المساهمون: Ege Üniversitesi, Elmas, Muhsin
مصطلحات موضوعية: 0301 basic medicine, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Turkey, Consanguinity, 03 medical and health sciences, symbols.namesake, Wholeexome sequencing, 0302 clinical medicine, medicine, Genetics, Humans, Spinocerebellar Ataxias, genetics, Exome sequencing, Spinocerebellar Degenerations, Sanger sequencing, biology, ataxia, medicine.disease, Optic Atrophy, 030104 developmental biology, Neurology, Muscle Spasticity, whole‐, Spinocerebellar ataxia, symbols, Frataxin, biology.protein, Neurology (clinical), medicine.symptom, Heterogeneity, heterogeneity, Trinucleotide repeat expansion, exome sequencing, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7dTest
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oaiTest -
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المؤلفون: Joan M. Brengman, Steven M. Sine, Andrew G. Engel, Nur Yüceyar, Feza Deymeer, Atchayaram Nalini, Veeramani Preethish-Kumar, Seena Vengalil, Hacer Durmus, Xin Ming Shen, Shelley Shen
المساهمون: Ege Üniversitesi
مصطلحات موضوعية: 0301 basic medicine, Adult, Patch-Clamp Techniques, Protein subunit, Mutant, DNA Mutational Analysis, Glutamic Acid, Gating, Receptors, Nicotinic, Signal transduction, Arginine, 03 medical and health sciences, Consanguinity, Humans, Receptor, Muscle, Skeletal, Ion channel, Acetylcholine receptor, Myasthenic Syndromes, Congenital, Chemistry, Homozygote, ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, General Medicine, Neuromuscular disease, Evoked Potentials, Motor, Recombinant Proteins, Cell biology, Coupling (electronics), ComputingMilieux_MANAGEMENTOFCOMPUTINGANDINFORMATIONSYSTEMS, 030104 developmental biology, HEK293 Cells, ComputingMethodologies_PATTERNRECOGNITION, Ion channels, Mutation, Muscle Biology, Female, InformationSystems_MISCELLANEOUS, Research Article, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6bfeed66106882b9280142978caefa0Test
https://hdl.handle.net/11454/25175Test -
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المؤلفون: Ursula Schlötzer-Schrehardt, Said Hashemolhosseini, Hacer Durmus, Piraye Serdaroglu-Oflazer, Aslıhan Tolun, Frédéric Chevessier, Rolf Schröder, Georg Hemmrich-Stanisak, Nane Eiber, Feza Deymeer, Andre Franke, Yesim Parman, Sebahattin Cirak, Christoph S. Clemen, Özgecan Ayhan
المصدر: Neurology. 87(8)
مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Adolescent, Generalized muscle weakness, Neuromuscular Junction, Genes, Recessive, Motor Endplate, Muscular Dystrophies, Desmin, 03 medical and health sciences, Consanguinity, Mice, 0302 clinical medicine, medicine, Animals, Humans, Albuterol, Repetitive nerve stimulation, Myopathy, Child, Adrenergic beta-2 Receptor Agonists, Acetylcholine receptor, business.industry, Facial weakness, Congenital myasthenic syndrome, medicine.disease, Pedigree, Disease Models, Animal, 030104 developmental biology, Female, Neurology (clinical), medicine.symptom, business, Cardiomyopathies, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9278913e5e84c6704731f7c0fa209b65Test
https://pubmed.ncbi.nlm.nih.gov/27440146Test