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1دورية أكاديمية
المؤلفون: Mari Mori, Jennifer Goldstein, Sarah P. Young, Edward H. Bossen, John Shoffner, Dwight D. Koeberl
المصدر: Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 39-41 (2015)
مصطلحات موضوعية: Mitochondrial myopathy, Cytochrome b, Complex III deficiency, Ketotic hypoglycemia, Carnitine deficiency, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2
المؤلفون: Anne F Buckley, Ankit K Desai, Christine I Ha, Maureen A Petersen, Januario C Estrada, Justin R Waterfield, Edward H Bossen, Priya S Kishnani
المصدر: Journal of Neuropathology & Experimental Neurology. 82:345-362
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology, Neurology (clinical), General Medicine, Pathology and Forensic Medicine
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3
المؤلفون: Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
المصدر: Molecular Therapy.
مصطلحات موضوعية: Pharmacology, Drug Discovery, Genetics, Molecular Medicine, Molecular Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ade7b2b9b5e1c9dfb4eab648fd879c08
https://doi.org/10.1016/j.ymthe.2023.02.014 -
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المؤلفون: Anne F. Buckley, Edward H. Bossen
المصدر: Journal of Neuropathology & Experimental Neurology. 72:906-918
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neuromuscular disease, Context (language use), Pathology and Forensic Medicine, Diagnosis, Differential, Pathogenesis, Cellular and Molecular Neuroscience, Diabetes mellitus, Biopsy, Humans, Medicine, Muscle, Skeletal, Muscle biopsy, medicine.diagnostic_test, business.industry, Skeletal muscle, Neuromuscular Diseases, General Medicine, medicine.disease, medicine.anatomical_structure, Neurology, Microvessels, Neurology (clinical), Differential diagnosis, business
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المؤلفون: Christine I. Ha, Priya S. Kishnani, Anne F. Buckley, Zoheb B. Kazi, Justin Waterfield, Stephanie Austin, Edward H. Bossen, Ankit K. Desai
المصدر: Molecular Genetics and Metabolism. 120:S60-S61
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Skeletal muscle, Disease, Biochemistry, Endocrinology, medicine.anatomical_structure, Genetics, Medicine, Fiber, business, Molecular Biology
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6
المؤلفون: Beth L. Thurberg, Anne Chun Hui Tsai, Kendra Afonso, Edward H. Bossen, Charles Vaccaro, Michael O'Callaghan, Priya S. Kishnani, Colleen Maloney
المصدر: Laboratory Investigation. 86:1208-1220
مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Satellite Cells, Skeletal Muscle, Biology, Quadriceps Muscle, Pathology and Forensic Medicine, chemistry.chemical_compound, Fatal Outcome, Image Interpretation, Computer-Assisted, Glycogen storage disease type II, medicine, Lysosomal storage disease, Humans, Molecular Biology, Alglucosidase alfa, Glycogen, Glycogen Storage Disease Type II, Infant, Muscle weakness, alpha-Glucosidases, Anatomical pathology, Cell Biology, Enzyme replacement therapy, medicine.disease, Capillaries, Microscopy, Electron, Muscle Fibers, Slow-Twitch, Treatment Outcome, chemistry, Female, medicine.symptom, Cell activation, medicine.drug
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7
المؤلفون: Salutario Martinez, A. Luna, Edward H. Bossen
المصدر: Skeletal Radiology. 34:19-28
مصطلحات موضوعية: Adult, Gadolinium DTPA, Male, Pathology, medicine.medical_specialty, animal diseases, Muscle Fibers, Skeletal, Contrast Media, Skeletal pathology, medicine, Edema, Humans, Radiology, Nuclear Medicine and imaging, Cyst, cardiovascular diseases, Pathological, Aged, Retrospective Studies, Muscle Neoplasms, medicine.diagnostic_test, business.industry, Myxoma, Magnetic resonance imaging, Middle Aged, Intramuscular Myxoma, Image enhancement, Image Enhancement, equipment and supplies, medicine.disease, Fibrosis, Magnetic Resonance Imaging, Myoma, Adipose Tissue, Thigh, cardiovascular system, Female, Collagen, business, human activities
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8
المؤلفون: Silvère M. Van Der Maarel, Evadnie Rampersaud, George W. Padberg, Margaret A. Pericak-Vance, Allan H. Friedman, Rabi Tawil, Edward H. Bossen, Marcy C. Speer, John R. Gilbert, Jeffrey M. Stajich, Richard W. Tim, Kristi D. Viles, Rune R. Frants
المصدر: Journal of Clinical Neuromuscular Disease. 3:1-7
مصطلحات موضوعية: Genetics, Muscle biopsy, medicine.diagnostic_test, business.industry, Genetic heterogeneity, General Medicine, medicine.disease, Atrophy, Chromosome 4, Neurology, Genetic marker, Genetic linkage, medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), business, Chromosome 12
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f312ae2492a3132a1f75743ad4c6a107
https://doi.org/10.1097/00131402-200109000-00001 -
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المؤلفون: Andrea Amalfitano, A. Resai Bengur, Richard P. Morse, Joseph M. Majure, Laura E. Case, Deborah L. Veerling, Joanne Mackey, Priya Kishnani, Wendy Smith, Alison McVie-Wylie, Jennifer A. Sullivan, George E. Hoganson, John A. Phillips, G. Bradley Schaefer, Joel Charrow, Russell E. Ware, Edward H. Bossen, Yuan-Tsong Chen
المصدر: Genetics in Medicine. 3:132-138
مصطلحات موضوعية: Genetics (clinical)
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المؤلفون: Yuan-Tsong Chen, A.Resai Bengur, John Phillips, Russell E. Ware, Andrea Amalfitano, Joanne Mackey, Joseph M. Majure, Richard P. Morse, Wendy A. Smith, Edward H. Bossen, Priya S. Kishnani, Jennifer A. Sullivan, George E. Hoganson, Alison McVie-Wylie, G. Bradley Schaefer, Deborah L. Veerling, Joel Charrow, Laura E. Case
المصدر: Genetics in Medicine. 3:132-138
مصطلحات موضوعية: Cardiac function curve, medicine.medical_specialty, Skeletal muscle, Enzyme replacement therapy, Biology, Muscle disorder, medicine.disease, Molecular biology, Gastroenterology, medicine.anatomical_structure, Internal medicine, Glycogen storage disease type II, Acid alpha-glucosidase, medicine, Adverse effect, Alglucosidase alfa, Genetics (clinical), medicine.drug