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1رسالة جامعية
المؤلفون: Vall Palomar, Mònica
مرشدي الرسالة: Meseguer Navarro, Anna, Ariceta Iraola, Gema
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: HFHNC, FHHNC, Exosomes, Exosomas, Gens modificadors, Genes modificadores, Genetic modifiers, Ciències de la Salut
وصف الملف: application/pdf
الوصول الحر: http://hdl.handle.net/10803/671335Test
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2دورية أكاديمية
المؤلفون: Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, DAngelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, DAmico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, Hoffman, Eric, Pegoraro, Elena, McDonald, Craig
المصدر: Journal of Neuromuscular Diseases. 11(2)
مصطلحات موضوعية: Duchenne muscular dystrophy, LTBP4, dilated cardiomyopathy, genetic modifiers, glucocorticoid treatment, Humans, Dystrophin, Haplotypes, Retrospective Studies, Stroke Volume, Ventricular Function, Left, Muscular Dystrophy, Duchenne, Cardiomyopathies, Protein Isoforms, Latent TGF-beta Binding Proteins
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5v7247q8Test
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3
المؤلفون: Tazelaar, Gijs H.P., Hop, Paul J., Seelen, Meinie, van Vugt, Joke J.F.A., van Rheenen, Wouter, Kool, Lindy, van Eijk, Kristel R., Gijzen, Marleen, Dooijes, Dennis, Moisse, Matthieu, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Nordin, Angelica, Pardina, Jesus S. Mora, Ravits, John, Al-Chalabi, Ammar, Chio, Adriano, McLaughlin, Russell L., Hardiman, Orla, Van Damme, Philip, de Carvalho, Mamede, Neuwirth, Christoph, Weber, Markus, Andersen, Peter M., 1962, van den Berg, Leonard H., Veldink, Jan H., van Es, Michael A.
المصدر: Neurobiology of Aging. 122:76-87
مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Genetic modifiers, Post-zygotic mutations, Repeat expansions
وصف الملف: electronic
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-201947Test
https://doi.org/10.1016/j.neurobiolaging.2022.11.010Test
https://umu.diva-portal.org/smash/get/diva2:1722422/FULLTEXT01.pdfTest -
4رسالة جامعيةInvesting the roles of E26 transformation-specific homologous factor in cystic fibrosis lung disease
المؤلفون: Pinte, Laetitia
المساهمون: Vallier, Ludovic, Cicuta, Pietro
مصطلحات موضوعية: Biology, Cystic Fibrosis, Genetic modifiers, Induced pluripotent stem cells, Lung disease, Stem Cells
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5دورية أكاديمية
المؤلفون: Yuwei Jiang, Lesley T. MacNeil
المصدر: Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-23 (2023)
مصطلحات موضوعية: Neurodegeneration, Aggregation, Alzheimer’s disease, Tauopathy, Amyloid-β, Genetic modifiers, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1326Test
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6دورية أكاديمية
المؤلفون: Sabbatini, Daniele, Fusto, Aurora, Vianello, Sara, Villa, Matteo, Janik, Joanna, DAngelo, Grazia, Diella, Eleonora, Magri, Francesca, Comi, Giacomo, Panicucci, Chiara, Bruno, Claudio, DAmico, Adele, Bertini, Enrico, Astrea, Guja, Battini, Roberta, Politano, Luisa, Masson, Riccardo, Baranello, Giovanni, Previtali, Stefano, Messina, Sonia, Vita, Gianluca, Berardinelli, Angela, Mongini, Tiziana, Pini, Antonella, Pane, Marika, Mercuri, Eugenio, Hoffman, Eric, Morgenroth, Lauren, Gordish-Dressman, Heather, Duong, Tina, Bello, Luca, Pegoraro, Elena, McDonald, Craig
المصدر: Journal of Neurology. 269(9)
مصطلحات موضوعية: CD40, Duchenne muscular dystrophy, Genetic modifiers, SPP1–osteopontin, Upper limb function, Actinin, Cohort Studies, Genotype, Humans, Muscular Dystrophy, Duchenne, Quality of Life, Upper Extremity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/78z8t30mTest
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7دورية أكاديمية
المؤلفون: Francesca Gatto, Silvia Benemei, Giulio Piluso, Luca Bello
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: Duchenne muscular dystrophy (DMD), dystrophin, genetic modifiers, genotype/phenotype, personalized medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1360224/fullTest; https://doaj.org/toc/1664-8021Test
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8دورية أكاديمية
المؤلفون: Chunyu Li, Qianqian Wei, Yanbing Hou, Junyu Lin, Ruwei Ou, Lingyu Zhang, Qirui Jiang, Yi Xiao, Kuncheng Liu, Xueping Chen, TianMi Yang, Wei Song, Bi Zhao, Ying Wu, Huifang Shang
المصدر: Molecular Neurodegeneration, Vol 18, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: Amyotrophic Lateral Sclerosis, Age at onset, GWAS, Genetic modifiers, NEAT1, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1326Test
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9دورية أكاديمية
المؤلفون: Morohuntodun O. Oni, Miguel Brito, Chloe Rotman, Natasha M. Archer
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 12, p 6317 (2024)
مصطلحات موضوعية: sickle cell disease, genetic modifiers, stroke, cerebral vasculopathy, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/12/6317Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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10رسالة جامعية
المؤلفون: Núñez, Mónica Alfonso
مصطلحات موضوعية: Quantitative trait analyses, Yeast, Genetic Modifiers, Huntington's disease (HD), Parkinson's Disease, Genetics and Genome Biology, thesis