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1دورية أكاديمية
المؤلفون: Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital
المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية أكاديمية
المصدر: PLoS ONE, Vol 15, Iss 8, p e0231364 (2020)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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المؤلفون: Robert, Lesurf, Abdelrahman, Said, Oyediran, Akinrinade, Jeroen, Breckpot, Kathleen, Delfosse, Ting, Liu, Roderick, Yao, Gabrielle, Persad, Fintan, McKenna, Ramil R, Noche, Winona, Oliveros, Kaia, Mattioli, Shreya, Shah, Anastasia, Miron, Qian, Yang, Guoliang, Meng, Michelle Chan Seng, Yue, Wilson W L, Sung, Bhooma, Thiruvahindrapuram, Jane, Lougheed, Erwin, Oechslin, Tapas, Mondal, Lynn, Bergin, John, Smythe, Shashank, Jayappa, Vinay J, Rao, Jayaprakash, Shenthar, Perundurai S, Dhandapany, Christopher, Semsarian, Robert G, Weintraub, Richard D, Bagnall, Jodie, Ingles, Marta, Melé, Philipp G, Maass, James, Ellis, Stephen W, Scherer, M, Zarowiecki
المساهمون: Barcelona Supercomputing Center
المصدر: UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)مصطلحات موضوعية: Genetics & Heredity, RISK, Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Science & Technology, Genetic testing, Cardiomyopathy, FUKUTIN GENE, MEDICAL GENETICS, ASSOCIATION, AMERICAN-COLLEGE, DILATED CARDIOMYOPATHY, Paediatric research, CLASSIFICATION, Gene regulation, carbohydrates (lipids), JOINT CONSENSUS RECOMMENDATION, Genòmica, RESOURCE, Genetics, TRANSCRIPTION FACTOR, Gene expression, Life Sciences & Biomedicine, Molecular Biology, Genetics (clinical), Genetic diseases
وصف الملف: application/pdf; Electronic
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06c17280981c333134a3fa06d7ec9729
https://hdl.handle.net/2117/364726 -
4دورية أكاديمية
المؤلفون: Fengzhu Xiong, Nikolaus D Obholzer, Ramil R Noche, Sean G Megason
المصدر: PLoS ONE, Vol 10, Iss 5, p e0127822 (2015)
وصف الملف: electronic resource
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المؤلفون: Ramil R. Noche, Rola Hammoud, Brandi Wasek, James J. Dowling, G. H. Anderson, Terry Bottiglieri, Ruslan Kubant, Rebecca Simonian, Xiucheng Cui, Emanuela Pannia
المصدر: Curr Dev Nutr
مصطلحات موضوعية: Nutrition and Dietetics, biology, Microglia, Methylenetetrahydrofolate reductase deficiency, Embryogenesis, Medicine (miscellaneous), medicine.disease, biology.organism_classification, Cell biology, medicine.anatomical_structure, Folic acid, medicine, Zebrafish, Neuroscience/Nutrition and the Brain, Food Science
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165ddfc90aeb4e199aa1affda11c23ef
https://europepmc.org/articles/PMC8180866/ -
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المؤلفون: Xiucheng Cui, Adeel Sheikh, James J. Dowling, Lacramioara Fabian, Sarah J. Smith, Steven A. Moore, Ramil R. Noche
المصدر: Hum Mol Genet
مصطلحات موضوعية: Muscular Dystrophies, Pathogenesis, 03 medical and health sciences, 0302 clinical medicine, Lysosome, Genetics, medicine, Myocyte, Animals, Humans, Muscle, Skeletal, Molecular Biology, Transcription factor, Zebrafish, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, General Medicine, medicine.disease, biology.organism_classification, Laminin, alpha 2, 3. Good health, Cell biology, medicine.anatomical_structure, Congenital muscular dystrophy, TFEB, Laminin, General Article, Lysosomes, 030217 neurology & neurosurgery, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adf4915720656626cad0c5e39085a522
https://pubmed.ncbi.nlm.nih.gov/34568901 -
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المؤلفون: Kaia Mattioli, Lynn Bergin, Bhooma Thiruvahindrapuram, Wilson W L Sung, Anastasia Miron, Jane Lougheed, Ramil R. Noche, Philipp G. Maass, Tapas Mondal, Winona Oliveros, Oyediran Akinrinade, Fintan McKenna, Marta Melé, Stephen W. Scherer, Robert Lesurf, Seema Mital, Jeroen Breckpot, John Smythe, Qian Yang, Abdelrahman Said, Roderick Yao, Ting Liu, Michelle Chan Seng Yue, Erwin Oechslin, James Ellis, Guoliang Meng, Kathleen Delfosse
مصطلحات موضوعية: Whole genome sequencing, Genetics, DSC2, Genetic disorder, Promoter, Biology, medicine.disease, carbohydrates (lipids), chemistry.chemical_compound, chemistry, Gene expression, medicine, Enhancer, Gene, DNA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0fd5cb2752010b37f4762a165334393
https://doi.org/10.1101/2020.10.12.20211474 -
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المؤلفون: Chooyoung Baek, Philippe Herbomel, Mireille Carrère, Doris Lou Demy, Ramil R. Noche, Malika Yousfi, Muriel Tauzin, Marion Le Bris, Ignaty Leshchiner, Wolfram Goessling
مصطلحات موضوعية: education.field_of_study, Microglia, Population, Wild type, Biology, biology.organism_classification, SLC7A7 Gene, Cell biology, medicine.anatomical_structure, medicine, Macrophage, Amino acid transporter, Efferocytosis, education, Zebrafish
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b181d9199b0bd120e88afa53ce6cd5
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المؤلفون: Peter J. Roy, Jessica Knox, Ramil R. Noche, Jonathan R. Volpatti, Yukari Endo, James J. Dowling, Linda Groom, Robert T. Dirksen, Stephanie Brennan, William J. Zuercher
المصدر: eLife, Vol 9 (2020)
مصطلحات موضوعية: 0301 basic medicine, Drug, QH301-705.5, Science, media_common.quotation_subject, Biology, drug screen, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, RYR1, medicine, Biology (General), Myopathy, Zebrafish, media_common, General Immunology and Microbiology, Ryanodine receptor, Myogenesis, General Neuroscience, Wild type, General Medicine, musculoskeletal system, biology.organism_classification, animal models, 3. Good health, Cell biology, excitation contraction coupling, 030104 developmental biology, Medicine, medicine.symptom, 030217 neurology & neurosurgery, Intracellular, myopathy
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المؤلفون: Robert T. Dirksen, Yukari Endo, Stephanie Brennan, Linda Groom, Jonathan R. Volpatti, Jessica Knox, Ramil R. Noche, William J. Zuercher, Peter J. Roy, James J. Dowling
مصطلحات موضوعية: Computer science, medicine, Multi species, Identification (biology), Computational biology, medicine.symptom, Myopathy, Pipeline (software)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::208222a7fc083438acb348a211ccc522
https://doi.org/10.7554/elife.52946.sa2